ID   AT6ABR
AC   CVCL_IW70
SY   Ataxia Telangiectasia 6 Australia BRisbane
DR   Wikidata; Q54750959
RX   PubMed=6228733;
RX   PubMed=6504056;
RX   PubMed=9150358;
CC   From: Queensland Institute of Medical Research; Brisbane; Australia.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Cys2824Tyr (c.8471G>A); ClinVar=VCV000234209; 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: 03-03-17; Last updated: 19-12-24; Version: 11
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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).
//
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).
//
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).
//