ID   GM12761
AC   CVCL_9619
DR   CLO; CLO_0022544
DR   EFO; EFO_0001152
DR   ArrayExpress; E-GEUV-1
DR   ArrayExpress; E-GEUV-2
DR   ArrayExpress; E-GEUV-3
DR   ArrayExpress; E-MTAB-3656
DR   ArrayExpress; E-MTAB-3657
DR   ArrayExpress; E-MTAB-5835
DR   BioSample; SAMN00801704
DR   Coriell; GM12761
DR   GEO; GSM25630
DR   GEO; GSM25631
DR   GEO; GSM112553
DR   GEO; GSM112856
DR   GEO; GSM188831
DR   GEO; GSM273348
DR   GEO; GSM273349
DR   GEO; GSM291680
DR   GEO; GSM314986
DR   GEO; GSM314987
DR   GEO; GSM420977
DR   GEO; GSM420978
DR   GEO; GSM486833
DR   GEO; GSM486834
DR   GEO; GSM648868
DR   GEO; GSM659973
DR   GEO; GSM660178
DR   GEO; GSM660384
DR   GEO; GSM905888
DR   GEO; GSM905983
DR   GEO; GSM906078
DR   GEO; GSM1719815
DR   IGSR; NA12761
DR   Wikidata; Q54846026
RX   PubMed=17122850;
RX   PubMed=19043577;
RX   PubMed=19797678;
RX   PubMed=20398888;
RX   PubMed=20856902;
RX   PubMed=21397061;
RX   PubMed=23676674;
RX   PubMed=24037378;
RX   PubMed=27617755;
RX   PubMed=29116076;
RX   PubMed=31048460;
WW   Info; CEPH; -; 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; 144710.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   Sequence variation: Mutation; HGNC; HGNC:2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12761).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Genomics; ChIP-seq; H3K27ac.
CC   Omics: Genomics; ChIP-seq; H3K4me1.
CC   Omics: Genomics; ChIP-seq; H3K4me3.
CC   Omics: Genomics; ChIP-seq; RPB2.
CC   Omics: Genomics; ChIP-seq; SPI1.
CC   Omics: Genomics; Whole genome sequencing.
CC   Omics: Proteomics.
CC   Omics: Transcriptomics; CAGE-seq.
CC   Omics: Transcriptomics; Microarray.
CC   Omics: Transcriptomics; RNAseq.
CC   Omics: Variations; CNV analysis.
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: 06-06-12; Last updated: 10-04-25; Version: 29
//
RX   PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898;
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; PMCID=PMC2583954;
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:e1000287.1-e1000287.16(2008).
//
RX   PubMed=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589;
RA   Nayak R.R., Kearns M., Spielman R.S., Cheung V.G.;
RT   "Coexpression network based on natural variation in human gene
RT   expression reveals gene interactions and functions.";
RL   Genome Res. 19:1953-1962(2009).
//
RX   PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017; PMCID=PMC2869002;
RA   Dombroski B.A., Nayak R.R., Ewens K.G., Ankener W., Cheung V.G.,
RA   Spielman R.S.;
RT   "Gene expression and genetic variation in response to endoplasmic
RT   reticulum stress in human cells.";
RL   Am. J. Hum. Genet. 86:719-729(2010).
//
RX   PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022;
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; PMCID=PMC3059424;
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; PMCID=PMC3789121;
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).
//
RX   PubMed=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453;
RA   Lappalainen T., Sammeth M., Friedlander M.R., 't Hoen P.A.C.,
RA   Monlong J., Rivas M.A., Gonzalez-Porta M., Kurbatova N., Griebel T.,
RA   Ferreira P.G., Barann M., Wieland T., Greger L., van Iterson M.,
RA   Almlof J.C., Ribeca P., Pulyakhina I., Esser D., Giger T., Tikhonov A.,
RA   Sultan M., Bertier G., MacArthur D.G., Lek M., Lizano E.,
RA   Buermans H.P.J., Padioleau I., Schwarzmayr T., Karlberg O., Ongen H.,
RA   Kilpinen H., Beltran S., Gut M., Kahlem K., Amstislavskiy V.,
RA   Stegle O., Pirinen M., Montgomery S.B., Donnelly P., McCarthy M.I.,
RA   Flicek P., Strom T.-M., Lehrach H., Schreiber S., Sudbrak R.,
RA   Carracedo A., Antonarakis S.E., Hasler R., Syvanen A.-C.,
RA   van Ommen G.-J.B., Brazma A., Meitinger T., Rosenstiel P., Guigo R.,
RA   Gut I.G., Estivill X., Dermitzakis E.T.;
RG   Geuvadis Consortium;
RT   "Transcriptome and genome sequencing uncovers functional variation in
RT   humans.";
RL   Nature 501:506-511(2013).
//
RX   PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111;
RA   Ferreira P.G., Oti M., Barann M., Wieland T., Ezquina S.,
RA   Friedlander M.R., Rivas M.A., Esteve-Codina A., Rosenstiel P.,
RA   Strom T.-M., Lappalainen T., Guigo R., Sammeth M.;
RG   Geuvadis Consortium;
RT   "Sequence variation between 462 human individuals fine-tunes
RT   functional sites of RNA processing.";
RL   Sci. Rep. 6:32406-32406(2016).
//
RX   PubMed=29116076; DOI=10.1038/s41467-017-01467-7; PMCID=PMC5677018;
RA   Garieri M., Delaneau O., Santoni F.A., Fish R.J., Mull D., Carninci P.,
RA   Dermitzakis E.T., Antonarakis S.E., Fort A.;
RT   "The effect of genetic variation on promoter usage and enhancer
RT   activity.";
RL   Nat. Commun. 8:1358.1-1358.9(2017).
//
RX   PubMed=31048460; DOI=10.1126/science.aat8266;
RA   Delaneau O., Zazhytska M., Borel C., Giannuzzi G., Rey G., Howald C.,
RA   Kumar S., Ongen H., Popadin K.Y., Marbach D., Ambrosini G., Bielser D.,
RA   Hacker D.L., Romano L., Ribaux P., Wiederkehr M., Falconnet E.,
RA   Bucher P., Bergmann S., Antonarakis S.E., Reymond A.,
RA   Dermitzakis E.T.;
RT   "Chromatin three-dimensional interactions mediate genetic effects on
RT   gene expression.";
RL   Science 364:eaat8266.1-eaat8266.10(2019).
//