ID   GM03395
AC   CVCL_7385
SY   GM3395; GM 3395; GM03395A
DR   CLO; CLO_0016644
DR   BioSample; SAMN00808389
DR   Coriell; GM03395
DR   Wikidata; Q54838046
RX   CelloPub=CLPUB00447;
RX   PubMed=6409440;
RX   PubMed=6726265;
RX   PubMed=7104995;
RX   PubMed=11080496;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Trp2638Ter (c.7913G>A); ClinVar=VCV000141233; Zygosity=Homozygous (Coriell=GM03395).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7381 ! GM03332
SX   Male
AG   13Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; 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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=6409440; DOI=10.1093/carcin/4.7.911;
RA   Smith P.J., Greene M.H., Adams D., Paterson M.C.;
RT   "Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of
RT   cultured fibroblasts from patients with dysplastic nevus syndrome and
RT   hereditary cutaneous malignant melanoma.";
RL   Carcinogenesis 4:911-916(1983).
//
RX   PubMed=6726265; DOI=10.1136/jnnp.47.4.391;
RA   Robbins J.H., Scudiero D.A., Otsuka F., Tarone R.E., Brumback R.A.,
RA   Wirtschafter J.D., Polinsky R.J., Barrett S.F., Moshell A.N.,
RA   Scarpinato R.G., Ganges M.B., Nee L.E., Meyer S.A., Clatterbuck B.E.;
RT   "Hypersensitivity to DNA-damaging agents in cultured cells from
RT   patients with Usher's syndrome and Duchenne muscular dystrophy.";
RL   J. Neurol. Neurosurg. Psych. 47:391-398(1984).
//
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).
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RX   PubMed=11080496; DOI=10.1074/jbc.M006190200;
RA   Gueven N., Keating K.E., Chen P., Fukao T., Khanna K.K., Watters D.,
RA   Rodemann P.H., Lavin M.F.;
RT   "Epidermal growth factor sensitizes cells to ionizing radiation by
RT   down-regulating protein mutated in ataxia-telangiectasia.";
RL   J. Biol. Chem. 276:8884-8891(2001).
//