ID   GM08436
AC   CVCL_F208
DR   CLO; CLO_0010557
DR   BioSample; SAMN00798064
DR   Coriell; GM08436
DR   Wikidata; Q54843210
RX   CelloPub=CLPUB00447;
RX   PubMed=8808599;
RX   PubMed=16166284;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp1548Thrfs*14 (c.4638_4641GATA[1]) (c.4642_4645delGATA); ClinVar=VCV000232070; Zygosity=Heterozygous (PubMed=8808599).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1978Ter (c.5932G>T); ClinVar=VCV000127414; Zygosity=Heterozygous (Coriell=GM08436).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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_UT47 ! GM08391
SX   Male
AG   5Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 19
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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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=8808599; PMCID=PMC1914811;
RA   Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D.,
RA   Concannon P.;
RT   "A high frequency of distinct ATM gene mutations in
RT   ataxia-telangiectasia.";
RL   Am. J. Hum. Genet. 59:839-846(1996).
//
RX   PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L.,
RA   Notaro R., Luzzatto L.;
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//