ID   GM07348
AC   CVCL_7465
SY   GM07348B
DR   CLO; CLO_0016951
DR   Coriell; GM07348
DR   GEO; GSM25415
DR   GEO; GSM25416
DR   GEO; GSM30024
DR   GEO; GSM112492
DR   GEO; GSM112772
DR   GEO; GSM188732
DR   GEO; GSM207757
DR   GEO; GSM291599
DR   GEO; GSM291600
DR   GEO; GSM420571
DR   GEO; GSM420572
DR   GEO; GSM648877
DR   IGSR; NA07348
DR   Wikidata; Q54842678
RX   CelloPub=CLPUB00447;
RX   PubMed=15514893;
RX   PubMed=16809669;
RX   PubMed=17122850;
RX   PubMed=19043577;
RX   PubMed=20856902;
RX   PubMed=21397061;
RX   PubMed=24924344;
RX   PubMed=26621101;
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; 134502.
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=GM07348).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Omics: Genome sequenced.
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   45Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 27
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=15514893; DOI=10.1086/426461;
RA   Monks S.A., Leonardson A.S., Zhu H., Cundiff P.E., Pietrusiak P.,
RA   Edwards S., Phillips J.W., Sachs A.B., Schadt E.E.;
RT   "Genetic inheritance of gene expression in human cell lines.";
RL   Am. J. Hum. Genet. 75:1094-1105(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=19043577; DOI=10.1371/journal.pgen.1000287;
RA   Choy E., Yelensky R., Bonakdar S., Plenge R.M., Saxena R.,
RA   De Jager P.L., Shaw S.Y., Wolfish C.S., Slavik J.M., Cotsapas C.,
RA   Rivas M.A., Dermitzakis E.T., Cahir-McFarland E., Kieff E.D.,
RA   Hafler D.A., Daly M.J., Altshuler D.M.;
RT   "Genetic analysis of human traits in vitro: drug response and gene
RT   expression in lymphoblastoid cell lines.";
RL   PLoS Genet. 4:E1000287-E1000287(2008).
//
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=24924344; DOI=10.1186/1756-0500-7-360;
RA   Hariani G.D., Lam E.J., Havener T., Kwok P.-Y., McLeod H.L.,
RA   Wagner M.J., Motsinger-Reif A.A.;
RT   "Application of next generation sequencing to CEPH cell lines to
RT   discover variants associated with FDA approved chemotherapeutics.";
RL   BMC Res. Notes 7:360.1-360.10(2014).
//
RX   PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005;
RA   Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U.,
RA   Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R.,
RA   Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.;
RT   "Characterization of 137 genomic DNA reference materials for 28
RT   pharmacogenetic genes: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 18:109-123(2016).
//