ID   AT6BR
AC   CVCL_ZN47
SY   Ataxia Telangiectasia 6 BRighton
DR   Wikidata; Q98125518
RX   PubMed=12082606;
RX   PubMed=18079351;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg1921Ter (c.5763-1050A>G) (IVS40+1126A>G) (5762ins137); ClinVar=VCV000003021; Zygosity=Unspecified (PubMed=12082606).
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_2563 ! AT6BR LCL
SX   Female
AG   13Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 8
//
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).
//
RX   PubMed=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.;
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
//