ID   AT6BI
AC   CVCL_WX40
SY   Ataxia Telangiectasia 6 BIrmingham
DR   Wikidata; Q93326429
RX   PubMed=837385;
RX   PubMed=3337113;
RX   PubMed=7471106;
RX   PubMed=7792600;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Leu2427_Arg2428del (c.7278_7283delCCTTAG); ClinVar=VCV000003020; Zygosity=Heterozygous (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)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=837385;
RA   Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A.,
RA   de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.;
RT   "Repair of ultraviolet light damage in a variety of human fibroblast
RT   cell strains.";
RL   Cancer Res. 37:904-910(1977).
//
RX   PubMed=3337113; PMCID=PMC1715319;
RA   Jaspers N.G.J., Taalman R.D.F.M., Baan C.C.;
RT   "Patients with an inherited syndrome characterized by
RT   immunodeficiency, microcephaly, and chromosomal instability: genetic
RT   relationship to ataxia telangiectasia.";
RL   Am. J. Hum. Genet. 42:66-73(1988).
//
RX   PubMed=7471106;
RA   Arlett C.F., Harcourt S.A.;
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(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).
//