ID   AT3NG
AC   CVCL_A0EV
SY   Ataxia Telangiectasia 3 NijmeGen
DR   Wikidata; Q108819859
RX   PubMed=7792600;
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser2860del (c.8575TCT[1]) (c.8578_8580delTCT) (Ser1512del); ClinVar=VCV000003018; Zygosity=Homozygous (PubMed=7792600).
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)
CA   Finite cell line
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
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).
//