ID   GM03334
AC   CVCL_F094
SY   GM03334A; GM17156
DR   CLO; CLO_0013963
DR   CLO; CLO_0016598
DR   BioSample; SAMN00808360
DR   Coriell; GM03334
DR   Coriell; GM17156
DR   GEO; GSM273423
DR   GEO; GSM569644
DR   GEO; GSM596221
DR   GEO; GSM597021
DR   GEO; GSM924666
DR   GEO; GSM1116565
DR   GEO; GSM1116566
DR   GEO; GSM1116609
DR   GEO; GSM1116610
DR   GEO; GSM1116611
DR   GEO; GSM1116612
DR   IPD-IMGT/HLA; 20692
DR   Wikidata; Q54838013
RX   CelloPub=CLPUB00447;
RX   PubMed=23943852;
CC   Part of: Human variation panel.
CC   Population: African American.
CC   HLA typing: A*02:02,23:DFKR; B*18:RRG,58:02; C*06:02,07:CVAG; DRB1*15:01,15:03 (IPD-IMGT/HLA=20692).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Trp2638Ter (c.7913G>A); ClinVar=VCV000141233; Zygosity=Heterozygous (Coriell=GM03334).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: DNA methylation analysis.
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7386 ! GM03396
SX   Female
AG   42Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 22
//
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=23943852; DOI=10.1152/physiolgenomics.00064.2013;
RA   Zhang L.-W., Simpson D.A., Innes C.L., Chou J., Bushel P.R.,
RA   Paules R.S., Kaufmann W.K., Zhou T.;
RT   "Gene expression signatures but not cell cycle checkpoint functions
RT   distinguish AT carriers from normal individuals.";
RL   Physiol. Genomics 45:907-916(2013).
//