ID   HG00124
AC   CVCL_P704
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   BioSamples; SAME122870
DR   Coriell; HG00124
DR   GEO; GSM649536
DR   GEO; GSM1718094
DR   IGSR; HG00124
DR   Wikidata; Q54883343
RX   PubMed=21397061;
RX   PubMed=24037378;
RX   PubMed=27617755;
RX   PubMed=31048460;
CC   Part of: International Genome Sample Resource (1000 genomes project) cell lines.
CC   Population: Caucasian; British from England and Scotland (GBR).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: H3K4me1 ChIP-seq epigenome analysis.
CC   Omics: H3K4me3 ChIP-seq epigenome analysis.
CC   Omics: H3K27ac ChIP-seq epigenome analysis.
CC   Omics: CNV analysis.
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by RNAseq.
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: 29-06-23; Version: 16
//
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=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=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).
//