ID   AT4BE
AC   CVCL_F083
SY   AT4Be; Ataxia Telangiectasia 4 BEthesda; GM03487; GM 3487; GM3487; GM03487C; GM03487E
DR   CLO; CLO_0017006
DR   BioSample; SAMN00808422
DR   Coriell; GM03487
DR   Wikidata; Q54838090
RX   CelloPub=CLPUB00447;
RX   PubMed=6726265;
RX   PubMed=7104995;
RX   PubMed=11172010;
RX   PubMed=19896956;
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=GM03487).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (Coriell=GM03487).
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_7377 ! AT4BE LCL
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 22
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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=6726265; DOI=10.1136/jnnp.47.4.391; PMCID=PMC1027781;
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. Psychiatry 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).
//
RX   PubMed=11172010; DOI=10.1073/pnas.98.4.1676; PMCID=PMC29316;
RA   Peretz S., Jensen R.B., Baserga R., Glazer P.M.;
RT   "ATM-dependent expression of the insulin-like growth factor-I receptor
RT   in a pathway regulating radiation response.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:1676-1681(2001).
//
RX   PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013;
RA   Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M.,
RA   Thompson L.H.;
RT   "Inter-individual variation in DNA double-strand break repair in human
RT   fibroblasts before and after exposure to low doses of ionizing
RT   radiation.";
RL   Mutat. Res. 683:91-97(2010).
//