ID   GM12236
AC   CVCL_9611
AS   CVCL_G517
SY   CEPH-1408-NA12236; 1408-1019
DR   CLO; CLO_0019202
DR   EFO; EFO_0001143
DR   Coriell; GM12236
DR   dbMHC; 48683
DR   GEO; GSM25568
DR   GEO; GSM25569
DR   GEO; GSM112537
DR   GEO; GSM112842
DR   GEO; GSM273331
DR   GEO; GSM273332
DR   GEO; GSM314930
DR   GEO; GSM314931
DR   GEO; GSM420819
DR   GEO; GSM420820
DR   GEO; GSM486809
DR   GEO; GSM486810
DR   GEO; GSM648891
DR   GEO; GSM659966
DR   GEO; GSM660153
DR   GEO; GSM660360
DR   GEO; GSM905873
DR   GEO; GSM905968
DR   GEO; GSM906063
DR   IHW; IHW01148
DR   IPD-IMGT/HLA; 25943
DR   Wikidata; Q54845620
RX   PubMed=17122850;
RX   PubMed=19797678;
RX   PubMed=20398888;
RX   PubMed=20856902;
RX   PubMed=21397061;
RX   PubMed=26621101;
RX   PubMed=29474986;
WW   https://www.cephb.fr/en/familles_CEPH.php
CC   Part of: CEPH/Utah pedigree cell line collection.
CC   Part of: International Histocompatibility Workshop cell lines.
CC   Registration: CEPH Families Reference Panel; 140811.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   HLA typing: A*02:01,02:01; B*07:02,44:02; C*05:01,07:02; DPA1*01:03,02:01:01; DPB1*04:02,14:01; DQA1*03:01,05:01; DQB1*03:01,03:02; DRB1*04:03,12:01 (IPD-IMGT/HLA=25943).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Omics: Transcriptome analysis by microarray.
CC   Discontinued: Coriell; GM12236; probable.
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   Age unspecified
CA   Transformed cell line
DT   Created: 06-06-12; Last updated: 05-10-23; Version: 25
//
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=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=26621101; DOI=10.1016/j.jmoldx.2015.08.005;
RA   Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U.,
RA   Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R.,
RA   Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.;
RT   "Characterization of 137 genomic DNA reference materials for 28
RT   pharmacogenetic genes: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 18:109-123(2016).
//
RX   PubMed=29474986; DOI=10.1016/j.jmoldx.2018.01.011;
RA   Pratt V.M., Del Tredici A.L., Hachad H., Ji Y., Kalman L.V.,
RA   Scott S.A., Weck K.E.;
RT   "Recommendations for clinical CYP2C19 genotyping allele selection: a
RT   report of the Association for Molecular Pathology.";
RL   J. Mol. Diagn. 20:269-276(2018).
//