SY   Ataxia Telangiectasia 8 BIrmingham
DR   Wikidata; Q111732943
RX   PubMed=3337113;
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV000187275; Zygosity=Unspecified (from autologous cell line).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_7322 ! AT8BI LCL
SX   Female
AG   28Y
CA   Finite cell line
DT   Created: 17-03-22; Last updated: 23-06-22; Version: 2
RX   PubMed=3337113;
RA   Jaspers N.G.J., Taalman R.D.F.M., Baan 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).