ID   AT5BR
AC   CVCL_WX71
SY   AT 5BR; Ataxia Telangiectasia 5 BRighton
DR   Wikidata; Q93326404
RX   PubMed=7836839;
RX   PubMed=12082606;
RX   PubMed=15574327;
RX   PubMed=18079351;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.5763-1050A>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_ZT24 ! AT5BR LCL
SX   Female
AG   30Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 8
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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).
//
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=15574327; DOI=10.1016/j.molcel.2004.10.029;
RA   Riballo E., Kuhne M., Rief N., Doherty A.J., Smith G.C.M., Recio M.-J.,
RA   Reis C., Dahm K., Fricke A., Krempler A., Parker A.R., Jackson S.P.,
RA   Gennery A.R., Jeggo P.A., Lobrich M.;
RT   "A pathway of double-strand break rejoining dependent upon ATM,
RT   Artemis, and proteins locating to gamma-H2AX foci.";
RL   Mol. Cell 16:715-724(2004).
//
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).
//