ID   GM03332
AC   CVCL_7381
SY   GM03332A
DR   CLO; CLO_0016595
DR   BioSample; SAMN00808358
DR   Coriell; GM03332
DR   GEO; GSM1116571
DR   GEO; GSM1116572
DR   GEO; GSM1116625
DR   GEO; GSM1116626
DR   GEO; GSM1116627
DR   GEO; GSM1116628
DR   Wikidata; Q54838010
RX   CelloPub=CLPUB00447;
RX   PubMed=23943852;
WW   https://strap.nci.nih.gov/celline_detail.php?sample_id=92
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Trp2638Ter (c.7913G>A); ClinVar=VCV000141233; Zygosity=Homozygous (Coriell=GM03332).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7385 ! GM03395
SX   Male
AG   13Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 19
//
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).
//