ID   AT45LA
AC   CVCL_N319
SY   Ataxia Telangiectasia 45 Los Angeles
DR   Wikidata; Q54750925
RX   PubMed=9150358;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg982fs (c.2945delT); 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)
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 13
//
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).
//