Cellosaurus cell line GM12891 (CVCL_9630)

• Mutation; HGNC; 2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Homozygous; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12891).
  

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Global variation in copy number in the human genome.
Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287
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Genome Res. 19:1953-1962(2009)

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.
Am. J. Hum. Genet. 86:719-729(2010)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480
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Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:e1000480.1-e1000480.14(2010)

PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004
Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M., Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.
Population-genetic properties of differentiated human copy-number polymorphisms.
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PubMed=23325432; DOI=10.1101/gr.147942.112
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Dynamic DNA methylation across diverse human cell lines and tissues.
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PubMed=23676674; DOI=10.1038/nature12223
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Variation and genetic control of protein abundance in humans.
Nature 499:79-82(2013)

PubMed=27792722; DOI=10.1371/journal.pcbi.1005151
Dilthey A.T., Gourraud P.-A., Mentzer A.J., Cereb N., Iqbal Z., McVean G.A.T.
High-accuracy HLA type inference from whole-genome sequencing data using population reference graphs.
PLoS Comput. Biol. 12:e1005151.1-e1005151.16(2016)