ID   AT8BI
AC   CVCL_B5MB
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 AT8BI LCL).
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)
OI   CVCL_7322 ! AT8BI LCL
SX   Female
AG   28Y
CA   Finite cell line
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=3337113;
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).
//