ID   XP3BR
AC   CVCL_M286
SY   Xeroderma Pigmentosum 3 BRighton; GM03616; GM3616
DR   CLO; CLO_0017187
DR   Coriell; GM03616
DR   Wikidata; Q54838159
RX   CelloPub=CLPUB00447;
RX   PubMed=1702221;
RX   PubMed=2175267;
RX   PubMed=2973075;
RX   PubMed=6307543;
RX   PubMed=6492896;
RX   PubMed=6600729;
RX   PubMed=7067035;
RX   PubMed=11219864;
RX   PubMed=11841555;
RX   PubMed=15572672;
RX   PubMed=18079351;
RX   PubMed=23370536;
CC   Senescence: Senesces at 17 PDL (PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 3437; ERCC5; Simple; p.Asp499Ilefs*23 (c.1494delA); ClinVar=VCV000016575; Zygosity=Heterozygous (PubMed=11841555).
CC   Sequence variation: Mutation; HGNC; 3437; ERCC5; Simple; p.Lys917Asnfs*64 (c.2751delA); ClinVar=VCV000016576; Zygosity=Heterozygous (PubMed=11841555).
CC   Caution: Could be identical to IMG-990 XP3Br2 (Cellosaurus=CVCL_IM57).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZP69 ! XP3BR LCL
SX   Male
AG   6-7Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 17
//
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=1702221; DOI=10.1073/pnas.87.24.9908;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
RX   PubMed=2175267; DOI=10.1016/0014-4827(90)90012-Y;
RA   Klein B., Pastink A., Odijk H., Westerveld A., van der Eb A.J.;
RT   "Transformation and immortalization of diploid xeroderma pigmentosum
RT   fibroblasts.";
RL   Exp. Cell Res. 191:256-262(1990).
//
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=6307543; DOI=10.1093/carcin/4.8.1075;
RA   Teo I.A., Lehmann A.R., Muller R., Rajewsky M.F.;
RT   "Similar rate of O6-ethylguanine elimination from DNA in normal human
RT   fibroblast and xeroderma pigmentosum cell strains not transformed by
RT   SV40.";
RL   Carcinogenesis 4:1075-1077(1983).
//
RX   PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7;
RA   Cleaver J.E.;
RT   "DNA repair deficiencies and cellular senescence are unrelated in
RT   xeroderma pigmentosum cell lines.";
RL   Mech. Ageing Dev. 27:189-196(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=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=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=11841555; DOI=10.1046/j.0022-202x.2001.01673.x;
RA   Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.;
RT   "The founding members of xeroderma pigmentosum group G produce XPG
RT   protein with severely impaired endonuclease activity.";
RL   J. Invest. Dermatol. 118:344-351(2002).
//
RX   PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004;
RA   Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T.,
RA   Lalle P., Raams A., Jaspers N.G.J., Vermeulen W., Shivji M.K.K.,
RA   Wood R.D., Clarkson S.G.;
RT   "Definition of a short region of XPG necessary for TFIIH interaction
RT   and stable recruitment to sites of UV damage.";
RL   Mol. Cell. Biol. 24:10670-10680(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=23370536; DOI=10.1038/jid.2013.54;
RA   Schafer A., Schubert S., Gratchev A., Seebode C., Apel A., Laspe P.,
RA   Hofmann L., Ohlenbusch A., Mori T., Kobayashi N., Schurer A.,
RA   Schon M.P., Emmert S.;
RT   "Characterization of three XPG-defective patients identifies three
RT   missense mutations that impair repair and transcription.";
RL   J. Invest. Dermatol. 133:1841-1849(2013).
//