ID   ATH15BE
AC   CVCL_F084
SY   ATH15Be; Ataxia Telangiectasia Heterozygote 15 BEthesda; GM03488; GM 3488; GM3488; GM03488A
DR   CLO; CLO_0017005
DR   BioSample; SAMN00808423
DR   Coriell; GM03488
DR   Wikidata; Q54838091
RX   CelloPub=CLPUB00447;
RX   PubMed=7104995;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Ser381Argfs*27 (c.1139_1142dupACAG) (c.1141_1142ins4); ClinVar=VCV000280044; Zygosity=Heterozygous (Coriell=GM03488).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F085 ! ATH15BE LCL
SX   Male
AG   41Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 17
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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).
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RX   PubMed=7104995;
RA   Kinsella T.J., Mitchell J.B., McPherson S., Russo A., Tietze F.;
RT   "In vitro X-ray sensitivity in ataxia telangiectasis homozygote and
RT   heterozygote skin fibroblasts under oxic and hypoxic conditions.";
RL   Cancer Res. 42:3950-3956(1982).
//