ID   GM12249
AC   CVCL_9614
AS   CVCL_G543
SY   CEPH-1416-NA12249; 1416-1187
DR   CLO; CLO_0019229
DR   EFO; EFO_0001146
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; SAMN00801317
DR   Coriell; GM12249
DR   dbMHC; 48714
DR   GEO; GSM25580
DR   GEO; GSM25581
DR   GEO; GSM112542
DR   GEO; GSM112845
DR   GEO; GSM188820
DR   GEO; GSM273337
DR   GEO; GSM273338
DR   GEO; GSM291666
DR   GEO; GSM291667
DR   GEO; GSM314936
DR   GEO; GSM314937
DR   GEO; GSM420833
DR   GEO; GSM420834
DR   GEO; GSM486815
DR   GEO; GSM486816
DR   GEO; GSM648863
DR   GEO; GSM659986
DR   GEO; GSM660192
DR   GEO; GSM660397
DR   GEO; GSM905876
DR   GEO; GSM905971
DR   GEO; GSM906066
DR   GEO; GSM1719787
DR   IGSR; NA12249
DR   IHW; IHW01174
DR   IPD-IMGT/HLA; 25967
DR   Wikidata; Q54845633
RX   PubMed=17122850;
RX   PubMed=19043577;
RX   PubMed=19797678;
RX   PubMed=20398888;
RX   PubMed=20856902;
RX   PubMed=21397061;
RX   PubMed=24037378;
RX   PubMed=27617755;
RX   PubMed=29116076;
RX   PubMed=31048460;
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   Part of: International Histocompatibility Workshop cell lines.
CC   Registration: CEPH Families Reference Panel; 141612.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   HLA typing: A*02:01,25:01; B*40:01,44:02:/03; C*03:04:01,05:01; DPA1*01:03,01:03; DPB1*03:01:01,04:01; DQA1*01:02,03:01; DQB1*03:02,06:04; DRB1*04:01,13:02 (IPD-IMGT/HLA=25967).
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=GM12249).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CAGE-seq analysis.
CC   Omics: H3K27ac ChIP-seq epigenome analysis.
CC   Omics: H3K4me1 ChIP-seq epigenome analysis.
CC   Omics: H3K4me3 ChIP-seq epigenome analysis.
CC   Omics: PU.1 ChIP-seq epigenome analysis.
CC   Omics: RPB2 ChIP-seq epigenome analysis.
CC   Omics: CNV analysis.
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by microarray.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: B-cell; CL=CL_0000236.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Transformed cell line
DT   Created: 06-06-12; Last updated: 30-01-24; Version: 30
//
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=19797678; DOI=10.1101/gr.097600.109;
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;
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;
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=24037378; DOI=10.1038/nature12531;
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.;
RT   "Transcriptome and genome sequencing uncovers functional variation in
RT   humans.";
RL   Nature 501:506-511(2013).
//
RX   PubMed=27617755; DOI=10.1038/srep32406;
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.;
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;
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., 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).
//