ID   XP1BR
AC   CVCL_M285
SY   Xeroderma Pigmentosum 1 BRighton; GM03615; GM 3615; GM3615
DR   CLO; CLO_0017190
DR   Coriell; GM03615
DR   JCRB; JCRB3064
DR   JCRB; KURB1067
DR   JCRB; KURB1068
DR   Wikidata; Q54838158
RX   CelloPub=CLPUB00447;
RX   DOI=10.1007/978-1-4757-5016-4_9;
RX   PubMed=1372108;
RX   PubMed=3347209;
RX   PubMed=4066782;
RX   PubMed=6492896;
RX   PubMed=6947227;
RX   PubMed=7059984;
RX   PubMed=7471106;
RX   PubMed=8055625;
RX   PubMed=9012405;
RX   PubMed=9238033;
RX   PubMed=11219864;
RX   PubMed=14688028;
RX   PubMed=15572672;
RX   PubMed=18079351;
CC   Senescence: Senesces at 26 PDL (PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (PubMed=9238033).
CC   Discontinued: JCRB; KURB1068; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 10,12
ST   D16S539: 9,12
ST   D5S818: 10,11
ST   D7S820: 8,9
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 16,17
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   41Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 19
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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   DOI=10.1007/978-1-4757-5016-4_9;
RA   Jaspers N.G.J., Roza L., Vermeulen W., Eker A.P.M., Taalman R.D.F.M.,
RA   Hoeijmakers J.H.J., Bootsma D.;
RT   "In vitro correction of cells from patients with mutagen
RT   hypersensitivity.";
RL   (In) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston (1989).
//
RX   PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b;
RA   Johnson R.T., Squires S.;
RT   "The XPD complementation group. Insights into xeroderma pigmentosum,
RT   Cockayne's syndrome and trichothiodystrophy.";
RL   Mutat. Res. 273:97-118(1992).
//
RX   PubMed=3347209; DOI=10.1016/0167-8817(88)90048-x;
RA   Squires S., Johnson R.T.;
RT   "Kinetic analysis of UV-induced incision discriminates between
RT   fibroblasts from different xeroderma pigmentosum complementation
RT   groups, XPA heterozygotes and normal individuals.";
RL   Mutat. Res. 193:181-192(1988).
//
RX   PubMed=4066782; DOI=10.1242/jcs.76.1.115;
RA   Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.;
RT   "Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet
RT   sensitivity associated with normal and diminished DNA repair ability,
RT   respectively.";
RL   J. Cell Sci. 76:115-133(1985).
//
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=6947227; DOI=10.1073/pnas.78.10.6236;
RA   Miskin R., Ben-Ishai R.;
RT   "Induction of plasminogen activator by UV light in normal and
RT   xeroderma pigmentosum fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981).
//
RX   PubMed=7059984;
RA   Cleaver J.E.;
RT   "Inactivation of ultraviolet repair in normal and xeroderma
RT   pigmentosum cells by methyl methanesulfonate.";
RL   Cancer Res. 42:860-863(1982).
//
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=8055625; DOI=10.1093/carcin/15.8.1493;
RA   Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M.,
RA   Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R.,
RA   Weber C.A., Sarasin A.;
RT   "Correction by the ERCC2 gene of UV sensitivity and repair deficiency
RT   phenotype in a subset of trichothiodystrophy cells.";
RL   Carcinogenesis 15:1493-1498(1994).
//
RX   PubMed=9012405;
RA   Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O.,
RA   Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.;
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
//
RX   PubMed=9238033; DOI=10.1073/pnas.94.16.8658;
RA   Taylor E.M., Broughton B.C., Botta E., Stefanini M., Sarasin A.,
RA   Jaspers N.G.J., Fawcett H., Harcourt S.A., Arlett C.F., Lehmann A.R.;
RT   "Xeroderma pigmentosum and trichothiodystrophy are associated with
RT   different mutations in the XPD (ERCC2) repair/transcription gene.";
RL   Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997).
//
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=14688028; DOI=10.1093/carcin/bgh046;
RA   Arbault S., Sojic N., Bruce D., Amatore C., Sarasin A., Vuillaume M.;
RT   "Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts.
RT   Real-time and single cell monitoring of superoxide and nitric oxide
RT   production with microelectrodes.";
RL   Carcinogenesis 25:509-515(2004).
//
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).
//