ID   GM12740
AC   CVCL_R665
DR   CLO; CLO_0022570
DR   Coriell; GM12740
DR   GEO; GSM89109
DR   GEO; GSM89110
DR   GEO; GSM112547
DR   GEO; GSM112850
DR   GEO; GSM188824
DR   GEO; GSM420950
DR   GEO; GSM648900
DR   GEO; GSM316459
DR   GEO; GSM316460
DR   GEO; GSM316461
DR   GEO; GSM862014
DR   GEO; GSM862015
DR   GEO; GSM862016
DR   GEO; GSM862017
DR   GEO; GSM862018
DR   GEO; GSM862019
DR   IGSR; NA12740
DR   Wikidata; Q54846005
RX   PubMed=14583597;
RX   PubMed=16809669;
RX   PubMed=17122850;
RX   PubMed=20856902;
RX   PubMed=21397061;
RX   PubMed=23676674;
WW   https://www.cephb.fr/en/familles_CEPH.php
CC   Part of: CEPH/Utah pedigree cell line collection.
CC   Part of: International Genome Sample Resource (1000 genomes project) cell lines.
CC   Registration: CEPH Families Reference Panel; 144402.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   Sequence variation: Mutation; HGNC; 2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12740).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Omics: Deep proteome analysis.
CC   Omics: Genome sequenced.
CC   Omics: SNP array analysis.
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 24
//
RX   PubMed=14583597; DOI=10.1152/physiolgenomics.00163.2003;
RA   Pastinen T., Sladek R., Gurd S., Sammak A., Ge B., Lepage P.,
RA   Lavergne K., Villeneuve A., Gaudin T., Brandstrom H., Beck A.,
RA   Verner A., Kingsley J., Harmsen E., Labuda D., Morgan K., Vohl M.-C.,
RA   Naumova A.K., Sinnett D., Hudson T.J.;
RT   "A survey of genetic and epigenetic variation affecting human gene
RT   expression.";
RL   Physiol. Genomics 16:184-193(2004).
//
RX   PubMed=16809669; DOI=10.1101/gr.5320706;
RA   Cheung V.G., Ewens W.J.;
RT   "Heterozygous carriers of Nijmegen breakage syndrome have a distinct
RT   gene expression phenotype.";
RL   Genome Res. 16:973-979(2006).
//
RX   PubMed=17122850; DOI=10.1038/nature05329;
RA   Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D.,
RA   Fiegler H., Shapero M.H., Carson A.R., Chen W.-W., Cho E.K., Dallaire S.,
RA   Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D.,
RA   Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L.,
RA   Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J.,
RA   Valsesia A., Woodwark C., Yang F.-T., Zhang J.-J., Zerjal T., Zhang J.,
RA   Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P.,
RA   Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E.;
RT   "Global variation in copy number in the human genome.";
RL   Nature 444:444-454(2006).
//
RX   PubMed=20856902; DOI=10.1371/journal.pbio.1000480;
RA   Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M.,
RA   Spielman R.S.;
RT   "Polymorphic cis- and trans-regulation of human gene expression.";
RL   PLoS Biol. 8:e1000480.1-e1000480.14(2010).
//
RX   PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004;
RA   Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M.,
RA   Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.;
RT   "Population-genetic properties of differentiated human copy-number
RT   polymorphisms.";
RL   Am. J. Hum. Genet. 88:317-332(2011).
//
RX   PubMed=23676674; DOI=10.1038/nature12223;
RA   Wu L.-F., Candille S.I., Choi Y., Xie D., Jiang L.-H., Li-Pook-Than J.,
RA   Tang H., Snyder M.P.;
RT   "Variation and genetic control of protein abundance in humans.";
RL   Nature 499:79-82(2013).
//