ID   AT5BI
AC   CVCL_7441
SY   AT 5BI; Ataxia Telangiectasia 5 BIrmingham; GM05823; GM5823; GM05823A; GM5823A; GM05823C
DR   CLO; CLO_0024679
DR   Coriell; GM05823
DR   JCRB; KURB1822
DR   Wikidata; Q54750947
RX   CelloPub=CLPUB00447;
RX   PubMed=450131;
RX   PubMed=2903889;
RX   PubMed=2973075;
RX   PubMed=3337113;
RX   PubMed=6442144;
RX   PubMed=6600729;
RX   PubMed=6810166;
RX   PubMed=6843573;
RX   PubMed=7067035;
RX   PubMed=7471105;
RX   PubMed=7471106;
RX   PubMed=7792600;
RX   PubMed=8808599;
RX   PubMed=8845835;
RX   PubMed=11219864;
RX   PubMed=10987302;
RX   PubMed=11313956;
RX   PubMed=12082606;
RX   PubMed=15574327;
RX   PubMed=18079351;
RX   PubMed=19896956;
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Leu2427_Arg2428del (c.7278_7283delCCTTAG); ClinVar=VCV000003020; Zygosity=Heterozygous (PubMed=7792600; PubMed=8845835).
CC   Misspelling: AT5B1; Note=Occasionally.
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)
SX   Male
AG   18Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 25
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=450131; DOI=10.1038/279797a0;
RA   Day R.S. III, Ziolkowski C.H.J.;
RT   "Human brain tumour cell strains with deficient host-cell reactivation
RT   of N-methyl-N'-nitro-N-nitrosoguanidine-damaged adenovirus 5.";
RL   Nature 279:797-799(1979).
//
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=2973075; DOI=10.2307/3577479;
RA   Fertil B., Deschavanne P.J., Debieu D., Malaise E.-P.;
RT   "Correlation between PLD repair capacity and the survival curve of
RT   human fibroblasts in exponential growth phase: analysis in terms of
RT   several parameters.";
RL   Radiat. Res. 116:74-88(1988).
//
RX   PubMed=3337113;
RA   Jaspers N.G.J., Taalman R.D.F.M., Baan C.C.;
RT   "Patients with an inherited syndrome characterized by
RT   immunodeficiency, microcephaly, and chromosomal instability: genetic
RT   relationship to ataxia telangiectasia.";
RL   Am. J. Hum. Genet. 42:66-73(1988).
//
RX   PubMed=6442144; DOI=10.1007/978-1-4684-4892-4_20;
RA   Nagasawa H., Little F.F., Burke M.J., McCone E.F., Targovnik H.S.,
RA   Chan G.L., Little J.B.;
RT   "Study of basal cell nevus syndrome fibroblasts after treatment with
RT   DNA-damaging agents.";
RL   Basic Life Sci. 29:775-785(1984).
//
RX   PubMed=6600729; DOI=10.1080/09553008314550171;
RA   Arlett C.F., Priestley A.;
RT   "Defective recovery from potentially lethal damage in some human
RT   fibroblast cell strains.";
RL   Int. J. Radiat. Biol. Relat. Stud. Phys. Chem. Med. 43:157-167(1983).
//
RX   PubMed=6810166; DOI=10.1016/0027-5107(82)90299-8;
RA   Barfknecht T.R., Little J.B.;
RT   "Hypersensitivity of ataxia telangiectasia skin fibroblasts to DNA
RT   alkylating agents.";
RL   Mutat. Res. 94:369-382(1982).
//
RX   PubMed=6843573; DOI=10.1016/0027-5107(83)90054-4;
RA   Nagasawa H., Little J.B.;
RT   "Comparison of kinetics of X-ray-induced cell killing in normal,
RT   ataxia telangiectasia and hereditary retinoblastoma fibroblasts.";
RL   Mutat. Res. 109:297-308(1983).
//
RX   PubMed=7067035; DOI=10.1093/carcin/3.1.33;
RA   Teo I.A., Arlett C.F.;
RT   "The response of a variety of human fibroblast cell strains to the
RT   lethal effects of alkylating agents.";
RL   Carcinogenesis 3:33-37(1982).
//
RX   PubMed=7471105;
RA   Weichselbaum R.R., Nove J., Little J.B.;
RT   "X-ray sensitivity of fifty-three human diploid fibroblast cell
RT   strains from patients with characterized genetic disorders.";
RL   Cancer Res. 40:920-925(1980).
//
RX   PubMed=7471106;
RA   Arlett C.F., Harcourt S.A.;
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(1980).
//
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=8808599;
RA   Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D.,
RA   Concannon P.;
RT   "A high frequency of distinct ATM gene mutations in
RT   ataxia-telangiectasia.";
RL   Am. J. Hum. Genet. 59:839-846(1996).
//
RX   PubMed=8845835; DOI=10.1093/hmg/5.4.433;
RA   Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K.,
RA   Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M.,
RA   Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A.,
RA   Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y.,
RA   Bar-Shira A.;
RT   "Predominance of null mutations in ataxia-telangiectasia.";
RL   Hum. Mol. Genet. 5:433-439(1996).
//
RX   PubMed=11219864; DOI=10.1093/carcin/1.9.745;
RA   Arlett C.F., Harcourt S.A., Lehmann A.R., Stevens S.,
RA   Ferguson-Smith M.A., Morley W.N.;
RT   "Studies on a new case of xeroderma pigmentosum (XP3BR) from
RT   complementation group G with cellular sensitivity to ionizing
RT   radiation.";
RL   Carcinogenesis 1:745-751(1980).
//
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=11313956; DOI=10.1038/sj.onc.1204072;
RA   Wood L.D., Halvorsen T.L., Dhar S., Baur J.A., Pandita R.K.,
RA   Wright W.E., Hande M.P., Calaf G., Hei T.K., Levine F., Shay J.W.,
RA   Wang J.J.Y., Pandita T.K.;
RT   "Characterization of ataxia telangiectasia fibroblasts with extended
RT   life-span through telomerase expression.";
RL   Oncogene 20:278-288(2001).
//
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., 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).
//
RX   PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013;
RA   Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M.,
RA   Thompson L.H.;
RT   "Inter-individual variation in DNA double-strand break repair in human
RT   fibroblasts before and after exposure to low doses of ionizing
RT   radiation.";
RL   Mutat. Res. 683:91-97(2010).
//