ID   GM06989
AC   CVCL_R579
DR   CLO; CLO_0036430
DR   ArrayExpress; E-GEUV-1
DR   ArrayExpress; E-GEUV-3
DR   ArrayExpress; E-MTAB-5835
DR   Coriell; GM06989
DR   GEO; GSM648884
DR   GEO; GSM1719742
DR   IGSR; NA06989
DR   Wikidata; Q54842430
RX   CelloPub=CLPUB00447;
RX   PubMed=21397061;
RX   PubMed=24037378;
RX   PubMed=27617755;
RX   PubMed=29116076;
RX   PubMed=31401124;
WW   https://www.cephb.fr/en/familles_CEPH.php
CC   Part of: International Genome Sample Resource (1000 genomes project) cell lines.
CC   Part of: CEPH/Utah pedigree cell line collection.
CC   Registration: CEPH Families Reference Panel; 132802/1328109/1329313.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CAGE-seq 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)
OI   CVCL_5F48 ! GM13043
OI   CVCL_5F49 ! GM13044
SX   Female
AG   62Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 21
//
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=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=31401124; DOI=10.1016/j.jmoldx.2019.06.007;
RA   Gaedigk A., Turner A., Everts R.E., Scott S.A., Aggarwal P.,
RA   Broeckel U., McMillin G.A., Melis R., Boone E.C., Pratt V.M.,
RA   Kalman L.V.;
RT   "Characterization of reference materials for genetic testing of CYP2D6
RT   alleles: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 21:1034-1052(2019).
//