ID   AT2ABR
AC   CVCL_IW69
SY   Ataxia Telangiectasia 2 Australia BRisbane
DR   Wikidata; Q54750861
RX   PubMed=2825700;
RX   PubMed=6197197;
RX   PubMed=7433105;
RX   PubMed=7792600;
RX   PubMed=9150358;
CC   From: Queensland Institute of Medical Research; Brisbane; Australia.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Homozygous (PubMed=7792600; 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: 29-06-23; Version: 9
//
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).
//
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).
//
RX   PubMed=7433105; DOI=10.1093/nar/8.16.3709;
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).
//
RX   PubMed=7792600; DOI=10.1126/science.7792600;
RA   Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L.,
RA   Tagle D.A., Smith S., Uziel T., Sfez S., Ashkenazi M., Pecker I.,
RA   Frydman M., Harnik R., Patanjali S.R., Simmons A.D., Clines G.A.,
RA   Sartiel A., Gatti R.A., Chessa L., Sanal O., Lavin M.F.,
RA   Jaspers N.G.J., Taylor A.M.R., Arlett C.F., Miki T., Weissman S.M.,
RA   Lovett M., Collins F.S., Shiloh Y.;
RT   "A single ataxia telangiectasia gene with a product similar to PI-3
RT   kinase.";
RL   Science 268:1749-1753(1995).
//
RX   PubMed=9150358; DOI=10.1038/sj.onc.1201037;
RA   Watters D., Khanna K.K., Beamish H.J., Birrell G., Spring K., Kedar P.,
RA   Gatei M., Stenzel D., Hobson K., Kozlov S., 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).
//