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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRPF18 Gene

protein-coding   GIFtS: 53
GCID: GC10P013628

PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)

(Previous name: PRP18 pre-mRNA processing factor 18 homolog (yeast) )
 Explore 6 diseases affiliated with
PRPF18 via our new
 Human Malady Compendium 
Biological research products
for PRPF18
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
PRP18 Pre-MRNA Processing Factor 18 Homolog (S. Cerevisiae)1 2     Pre-MRNA-Splicing Factor 182
HPrp181     PRP18 Pre-MRNA Processing Factor 18 Homolog(PRPF18)2
PRP18 Homolog2 3     HPRP183
PRP182 5     HPRP183
PRP18 Pre-MRNA Processing Factor 18 Homolog (Yeast)1     

External Ids:    HGNC: 173511   Entrez Gene: 85592   Ensembl: ENSG000001656307   OMIM: 6049935   UniProtKB: Q996333   

Export aliases for PRPF18 gene to outside databases

Previous GC identifers: GC10P013611 GC10P013779 GC10P013633 GC10P013669 GC10P013540


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRPF18:
Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be
essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven
WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast
splicing factor Prp18. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PRP18_HUMAN, Q99633
Function: Participates in the second step of pre-mRNA splicing




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRPF18 gene promoter:
         Bach1   LHX3b/Lhx3b   GCNF   SREBP-1c   SREBP-1b   E47   SREBP-1a   POU2F1   POU2F1a   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRPF18 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRPF18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPF18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p13   Ensembl cytogenetic band:  10p13   HGNC cytogenetic band: 10p12.33

PRPF18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPF18 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P013628:  view genomic region     (about GC identifiers)

Start:
13,628,927 bp from pter      End:
13,672,868 bp from pter
Size:
43,942 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PRP18_HUMAN, Q99633 (See protein sequence)
Recommended Name: Pre-mRNA-splicing factor 18  
Size: 342 amino acids; 39860 Da
Subunit: Heterodimer with PPIH. Interacts with PRPF4 and with the spliceosome. Part of a complex containing U4/U6
snRNPs
Subcellular location: Nucleus speckle (By similarity). Note=Colocalizes with spliceosomal snRNPs (By similarity)
1 PDB 3D structure from and Proteopedia for PRPF18:
2DK4 (3D)    
Secondary accessions: Q5T9P9 Q9BUI9
Alternative splicing: 2 isoforms:  Q99633-1   Q99633-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PRPF18: NX_Q99633

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99633

  • PRPF18 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003666.1  
    ENSEMBL proteins: 
     ENSP00000367835   ENSP00000392142   ENSP00000367824  

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    Novus Biologicals PRPF18 Protein
    Novus Biologicals PRPF18 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PRPF18

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS9000057
    GO:0005681spliceosomal complex IEA--
    GO:0016607nuclear speck IEA--


    PRPF18 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PRPF18


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PRPF18 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR014906 PRP4
     IPR003648 SFM
     IPR004098 Prp18

    Graphical View of Domain Structure for InterPro Entry Q99633

    ProtoNet protein and cluster: Q99633

    UniProtKB/Swiss-Prot: PRP18_HUMAN, Q99633
    Similarity: Belongs to the PRP18 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PRP18_HUMAN, Q99633
    Function: Participates in the second step of pre-mRNA splicing

    miRNA
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019870potassium channel inhibitor activity ----


    PRPF18 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PRPF18:
     Decreased G3BP1 protein expres 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    mRNA processing0.48
    Spliceosome0.31

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for PRPF18 
        mRNA processing


    1         Kegg Pathway  (Kegg details for PRPF18):
        Spliceosome


    PRPF18 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRPF18

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for PRPF18 (Q996333 ENSP000003678354) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPIHO434473, ENSP000003066144I2D: score=2 STRING: ENSP00000306614
    CKBP122773I2D: score=5 
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing IEA--


    PRPF18 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRPF18
    Search CenterWatch for drugs/clinical trials and news about PRPF18 / PRP18 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRPF18 gene: 
    NM_003675.3  

    Unigene Cluster for PRPF18:

    PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)
    Hs.729158  [show with all ESTs]
    Unigene Representative Sequence: NM_003675
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378572(uc001imp.3) ENST00000417658 ENST00000320054

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    Inhib. RNA
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    Additional cDNA sequence: 

    AF087997.1 AK314814.1 BC000794.1 BC002572.2 U51990.1 

    13 DOTS entries:

    DT.451218  DT.95369023  DT.100778395  DT.91753918  DT.121234467  DT.100778394  DT.100778397  DT.121234522 
    DT.410141  DT.102842957  DT.121234578  DT.100018012  DT.100891624 

    24/189 AceView cDNA sequences (see all 189):

    CB157880 CB119652 CR606297 BP339860 CA432267 BU852266 AF087997 BU627362 
    BM678451 BX647538 BU684142 BP342863 CA423849 BE502519 BM721939 BF057744 
    U51990 BF842509 BU616913 AL137400 BP368092 CA429508 CA429447 AA548354 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PRPF18    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
    SP1:              -                                                                     
    SP2:                                                        -                           
    SP3:                                                                                    


    ECgene alternative splicing isoforms for PRPF18

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRPF18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGACCATTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PRPF18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRPF18

    SOURCE GeneReport for Unigene cluster: Hs.729158
        SABiosciences Custom PCR Arrays for PRPF18
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPF18

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PRPF18 gene from 8/32 species (see all 32)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PRPF181 PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) 80.99(n)
    92.4(a)
      419036  XM_417229.3  XP_417229.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRPF186
    --
    92(a)
    1 → many
    5(90152592-90170726)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.136542 Xenopus laevis transcribed sequence with moderate similarity more 77.59(n)    BX847050.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM316634.12   -- 77.19(n)    BM316634.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Prp181 , 3 mRNA splicing pre-mRNA splicing factor3
    CG6011-PA1
    51(a)3
    55.46(n)1
    52.55(a)1
      91E43
    422851  NM_142519.11  NP_650776.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F32B6.31 , 3 Human HPRP18 protein like3
    Protein F32B6.31
    38(a)3
    49.95(n)1
    40.73(a)1
      IV(9882376-9884456)3
    1778401  NM_069375.31  NP_501776.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G031401 splicing factor Prp18-like protein 48.67(n)
    40.12(a)
      839567  NM_100196.2  NP_563676.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05719001 hypothetical protein 50.49(n)
    42.34(a)
      4343671  NM_001066589.1  NP_001060054.1 


    ENSEMBL Gene Tree for PRPF18 (if available)
    TreeFam Gene Tree for PRPF18 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/818 NCBI SNPs in PRPF18 are shown (see all 818    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1431562411,2
    --13626944(+) TTAAGC/TGTTTC 1 -- us2k10--------
    rs22553331,2
    C,--13626964(+) CTTTTC/TTTTTT 1 -- us2k1 trp35Minor allele frequency- T:0.10WA NA 10
    rs618352651,2
    --13627013(+) CAGGCC/TGGAGT 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs79042801,2
    C,--13627051(+) acctcC/Tgcctc 1 -- us2k10--------
    rs727675381,2
    C,F,--13627254(+) NNNNCC/TGGCCT 1 -- us2k11Minor allele frequency- T:0.05NA 120
    rs1903134101,2
    --13627390(+) ATTCAG/TTGCAC 1 -- us2k10--------
    rs1834132251,2
    --13627409(+) ATAAAC/TGTAGA 1 -- us2k10--------
    rs1878973331,2
    --13627425(+) ATGAAA/CGTCTA 1 -- us2k10--------
    rs1932016971,2
    --13627428(+) AAAGTC/GTAAAA 1 -- us2k10--------
    rs1833893601,2
    --13627459(+) TGTAGC/TTAGTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PRPF18 (13628927 - 13672868 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PRPF18
         1 CNV: 4666

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PRPF18 for disorders           About GeneDecksing

    OMIM gene information: 604993    OMIM disorders: --

    6 diseases for PRPF18:    About MalaCards
    pityriasis rubra pilaris    palmoplantar keratosis    exanthem    keratosis
    alzheimer's disease    malaria

    3 diseases from the University of Copenhagen DISEASES database for PRPF18:
    Pityriasis rubra pilaris     Exanthem     Palmoplantar keratosis
    Human Genome Epidemiology (HuGE) Navigator: PRPF18 (2 documents)

    Export disorders for PRPF18 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRPF18 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with PRPF18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human protein required for the second step of pre-mRNA splicing is functionally related to a yeast splicing factor. (PubMed id 9000057)1, 2, 3, 9 Horowitz D.S. and Krainer A.R. (1997)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. A cyclophilin functions in pre-mRNA splicing. (PubMed id 11823439)1, 2 Horowitz D.S.... Misteli T. (2002)
    4. Solution structure of the splicing factor motif of the human Prp18 protein. (PubMed id 22213562)1 He F....Muto Y. (2012)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
    9. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8559 HGNC: 17351 AceView: PRPF18 Ensembl:ENSG00000165630 euGenes: HUgn8559
    ECgene: PRPF18 Kegg: 8559 H-InvDB: PRPF18

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRPF18 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRPF18 gene:
    Search GeneIP for patents involving PRPF18

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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