Cellosaurus cell line GM12717 (CVCL_9616)

• Mutation; HGNC; 2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Homozygous; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12717).
  

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Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287
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PLoS Genet. 4:E1000287-E1000287(2008)

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PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017
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Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells.
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PubMed=20856902; DOI=10.1371/journal.pbio.1000480
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Transcriptome and genome sequencing uncovers functional variation in humans.
Nature 501:506-511(2013)

PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005
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Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
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PubMed=27617755; DOI=10.1038/srep32406
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PubMed=29116076; DOI=10.1038/s41467-017-01467-7
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The effect of genetic variation on promoter usage and enhancer activity.
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