ID   AT3ABR
AC   CVCL_M912
SY   Ataxia Telangiectasia 3 Australia BRisbane
DR   EFO; EFO_0022451
DR   Wikidata; Q54750911
RX   PubMed=2825700;
RX   PubMed=2836804;
RX   PubMed=6197197;
RX   PubMed=6228733;
RX   PubMed=6504056;
RX   PubMed=7433105;
RX   PubMed=8808599;
RX   PubMed=9150358;
RX   PubMed=9168117;
RX   PubMed=11080496;
CC   From: Queensland Institute of Medical Research; Brisbane; Australia.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (PubMed=9150358).
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)
SX   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 19
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RX   PubMed=2825700; DOI=10.1016/0006-291X(87)91629-9;
RA   Mohamed R., Singh S.P., Kumar S., Lavin M.F.;
RT   "A defect in DNA topoisomerase II activity in ataxia-telangiectasia
RT   cells.";
RL   Biochem. Biophys. Res. Commun. 149:233-238(1987).
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RX   PubMed=2836804; DOI=10.1093/nar/16.9.3919; PMCID=PMC336565;
RA   Singh S.P., Mohamed R., Salmond C., Lavin M.F.;
RT   "Reduced DNA topoisomerase II activity in ataxia-telangiectasia
RT   cells.";
RL   Nucleic Acids Res. 16:3919-3929(1988).
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RX   PubMed=6197197; DOI=10.1016/0009-2797(83)90167-9;
RA   Imray F.P., Kidson C.;
RT   "Responses of Huntington's disease and ataxia telangiectasia
RT   lymphoblastoid cells to bleomycin.";
RL   Chem. Biol. Interact. 47:325-336(1983).
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RX   PubMed=6228733; DOI=10.1016/0167-8817(83)90030-5;
RA   Imray F.P., Kidson C.;
RT   "Perturbations of cell-cycle progression in gamma-irradiated ataxia
RT   telangiectasia and Huntington's disease cells detected by DNA flow
RT   cytometric analysis.";
RL   Mutat. Res. 112:369-382(1983).
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RX   PubMed=6504056; DOI=10.1016/0027-5107(84)90149-0;
RA   Chen P., Imray F.P., Kidson C.;
RT   "Gene dosage and complementation analysis of ataxia telangiectasia
RT   lymphoblastoid cell lines assayed by induced chromosome
RT   aberrations.";
RL   Mutat. Res. 129:165-172(1984).
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RX   PubMed=7433105; DOI=10.1093/nar/8.16.3709; PMCID=PMC324185;
RA   Houldsworth J., Lavin M.F.;
RT   "Effect of ionizing radiation on DNA synthesis in ataxia
RT   telangiectasia cells.";
RL   Nucleic Acids Res. 8:3709-3720(1980).
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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).
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RX   PubMed=9150358; DOI=10.1038/sj.onc.1201037;
RA   Watters D., Khanna K.K., Beamish H.J., Birrell G.W., Spring K., Kedar P.,
RA   Gatei M., Stenzel D., Hobson K., Kozlov S.V., Zhang N., Farrell A.,
RA   Ramsay J., Gatti R.A., Lavin M.F.;
RT   "Cellular localisation of the ataxia-telangiectasia (ATM) gene product
RT   and discrimination between mutated and normal forms.";
RL   Oncogene 14:1911-1921(1997).
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RX   PubMed=9168117; DOI=10.1038/387520a0;
RA   Shafman T., Khanna K.K., Kedar P., Spring K., Kozlov S.V., Yen T.J.,
RA   Hobson K., Gatei M., Zhang N., Watters D., Egerton M., Shiloh Y.,
RA   Kharbanda S., Kufe D.W., Lavin M.F.;
RT   "Interaction between ATM protein and c-Abl in response to DNA
RT   damage.";
RL   Nature 387:520-523(1997).
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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).
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