ID   AT2BR
AC   CVCL_WY25
SY   Ataxia Telangiectasia 2 BRighton
DR   Wikidata; Q93326315
RX   PubMed=2903889;
RX   PubMed=7792600;
RX   PubMed=7836839;
RX   PubMed=10987302;
RX   PubMed=16714754;
RX   PubMed=18079351;
CC   Population: Caucasian; Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Homozygous (PubMed=7792600).
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_2564 ! AT2BR LCL
SX   Female
AG   13Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=2903889; DOI=10.1080/09553008814552321;
RA   Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.;
RT   "Comparative human cellular radiosensitivity: I. The effect of SV40
RT   transformation and immortalisation on the gamma-irradiation survival
RT   of skin derived fibroblasts from normal individuals and from
RT   ataxia-telangiectasia patients and heterozygotes.";
RL   Int. J. Radiat. Biol. 54:911-928(1988).
//
RX   PubMed=7792600; DOI=10.1126/science.7792600;
RA   Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L.,
RA   Tagle D.A., Smith S., Uziel T., Sfez S., Ashkenazi M., Pecker I.,
RA   Frydman M., Harnik R., Patanjali S.R., Simmons A.D., Clines G.A.,
RA   Sartiel A., Gatti R.A., Chessa L., Sanal O., Lavin M.F.,
RA   Jaspers N.G.J., Taylor A.M.R., Arlett C.F., Miki T., Weissman S.M.,
RA   Lovett M., Collins F.S., Shiloh Y.;
RT   "A single ataxia telangiectasia gene with a product similar to PI-3
RT   kinase.";
RL   Science 268:1749-1753(1995).
//
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=10987302;
RA   Girard P.-M., Foray N., Stumm M., Waugh A.P.W., Riballo E., Maser R.S.,
RA   Phillips W.P., Petrini J.H.J., Arlett C.F., Jeggo P.A.;
RT   "Radiosensitivity in Nijmegen breakage syndrome cells is attributable
RT   to a repair defect and not cell cycle checkpoint defects.";
RL   Cancer Res. 60:4881-4888(2000).
//
RX   PubMed=16714754; DOI=10.1259/bjr/83726649;
RA   Arlett C.F., Plowman P.N., Rogers P.B., Parris C.N., Abbaszadeh F.,
RA   Green M.H.L., McMillan T.J., Bush C., Foray N., Lehmann A.R.;
RT   "Clinical and cellular ionizing radiation sensitivity in a patient
RT   with xeroderma pigmentosum.";
RL   Br. J. Radiol. 79:510-517(2006).
//
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).
//