ID   AT6BR LCL
AC   CVCL_2563
SY   Ataxia Telangiectasia 6 BRighton LCL; LB541; 541
DR   ECACC; 98062326
DR   Wikidata; Q54902071
RX   PubMed=12082606;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.5763-1050A>G (5762ins137); ClinVar=VCV000003021; Zygosity=Unspecified (from autologous cell line AT6BR).
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_ZN47 ! AT6BR
SX   Female
AG   13Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 15
//
RX   PubMed=12082606; DOI=10.1038/sj.onc.1205596;
RA   Girard P.-M., Riballo E., Begg A.C., Waugh A.P.W., Jeggo P.A.;
RT   "Nbs1 promotes ATM dependent phosphorylation events including those
RT   required for G1/S arrest.";
RL   Oncogene 21:4191-4199(2002).
//