ID   GM11992
AC   CVCL_7515
AS   CVCL_G503
SY   CEPH-1362-NA11992; 1362-8573
DR   CLO; CLO_0020500
DR   EFO; EFO_0001124
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   Coriell; GM11992
DR   dbMHC; 48665
DR   GEO; GSM25524
DR   GEO; GSM25525
DR   GEO; GSM30091
DR   GEO; GSM112518
DR   GEO; GSM112823
DR   GEO; GSM188796
DR   GEO; GSM273301
DR   GEO; GSM273302
DR   GEO; GSM291631
DR   GEO; GSM314890
DR   GEO; GSM314891
DR   GEO; GSM420723
DR   GEO; GSM420724
DR   GEO; GSM424336
DR   GEO; GSM486771
DR   GEO; GSM486772
DR   GEO; GSM648942
DR   GEO; GSM659997
DR   GEO; GSM660204
DR   GEO; GSM660408
DR   GEO; GSM905856
DR   GEO; GSM905951
DR   GEO; GSM906046
DR   GEO; GSM957346
DR   GEO; GSM957372
DR   GEO; GSM957429
DR   GEO; GSM1719770
DR   IGSR; NA11992
DR   IHW; IHW01134
DR   IPD-IMGT/HLA; 25931
DR   Wikidata; Q54845427
RX   PubMed=15514893;
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   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; 136213.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   HLA typing: A*01:01,02:01; B*35:01,08:01; C*04:01,07:01; DPA1*01:03,01:03; DPB1*04:01,04:02; DQA1*01:01,05:01; DQB1*02:01,05:01:01; DRB1*01:01,03:01 (IPD-IMGT/HLA=25931).
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: Deep proteome 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   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 27
//
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=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=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).
//
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).
//