ID   GM03382
AC   CVCL_F107
AS   CVCL_7653
SY   GM17102
DR   CLO; CLO_0014896
DR   CLO; CLO_0016631
DR   BioSample; SAMN00808381
DR   Coriell; GM03382
DR   Coriell; GM17102
DR   GEO; GSM273372
DR   GEO; GSM569494
DR   GEO; GSM596170
DR   GEO; GSM596971
DR   GEO; GSM827331
DR   GEO; GSM924612
DR   IPD-IMGT/HLA; 15334
DR   Wikidata; Q54838038
RX   CelloPub=CLPUB00447;
RX   PubMed=16260726;
RX   PubMed=20215515;
RX   PubMed=26621101;
RX   PubMed=31401124;
CC   Part of: Human variation panel.
CC   Population: African American.
CC   HLA typing: A*30:02,74:AB; B*39:10,53:01; C*04:KBG,12:03 (IPD-IMGT/HLA=15334).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Trp2638Ter (c.7913G>A); ClinVar=VCV000141233; Zygosity=Heterozygous (Coriell=GM03382).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: DNA methylation analysis.
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7387 ! GM03397
SX   Male
AG   43Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 22
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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=16260726; DOI=10.1073/pnas.0508390102;
RA   Harris S.L., Gil G., Robins H., Hu W.-W., Hirshfield K.M., Bond E.,
RA   Bond G., Levine A.J.;
RT   "Detection of functional single-nucleotide polymorphisms that affect
RT   apoptosis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005).
//
RX   PubMed=20215515; DOI=10.1158/0008-5472.CAN-09-3458;
RA   Rothenberg S.M., Mohapatra G., Rivera M.N., Winokur D., Greninger P.,
RA   Nitta M., Sadow P.M., Sooriyakumar G., Brannigan B.W., Ulman M.J.,
RA   Perera R.M., Wang R., Tam A., Ma X.-J., Erlander M., Sgroi D.C.,
RA   Rocco J.W., Lingen M.W., Cohen E.E.W., Louis D.N., Settleman J.,
RA   Haber D.A.;
RT   "A genome-wide screen for microdeletions reveals disruption of
RT   polarity complex genes in diverse human cancers.";
RL   Cancer Res. 70:2158-2164(2010).
//
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=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).
//