ID   AT2BR LCL
AC   CVCL_2564
SY   Ataxia Telangiectasia 2 BRighton LCL; LB58; 58
DR   ECACC; 98062325
DR   Wikidata; Q54902072
RX   PubMed=7836839;
CC   Population: Caucasian; Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Homozygous (from autologous cell line AT2BR).
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)
OI   CVCL_WY25 ! AT2BR
SX   Female
AG   13Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 15
//
RX   PubMed=7836839; DOI=10.1080/09553009414551951;
RA   Cole J., Arlett C.F.;
RT   "Cloning efficiency and spontaneous mutant frequency in circulating
RT   T-lymphocytes in ataxia-telangiectasia patients.";
RL   Int. J. Radiat. Biol. 66:S123-S131(1994).
//