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; 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=JCRB3064
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: 19-12-24; Version: 21
//
RX   PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b;
RA   Johnson, Robert T.
RA   Squires, Shoshana
RT   "The XPD complementation group. Insights into xeroderma pigmentosum,
RT   Cockayne's syndrome and trichothiodystrophy.";
RL   Mutat. Res. 273:97-118(1992).
//
RX   PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004; PMCID=PMC533987;
RA   Thorel, Fabrizio
RA   Constantinou, Angelos
RA   Dunand-Sauthier, Isabelle
RA   Nouspikel, Thierry
RA   Lalle, Philippe
RA   Raams, Anja
RA   Jaspers, Nicolaas G.J.
RA   Vermeulen, Wim
RA   Shivji, Mahmud K.K.
RA   Wood, Richard Dean
RA   Clarkson, Stuart Gordon
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=9012405; PMCID=PMC1712398;
RA   Weeda, Geert
RA   Eveno, Eric
RA   Donker, Ingrid
RA   Vermeulen, Wim
RA   Chevallier-Lagente, Odile
RA   Taieb, Alain
RA   Stary, Anne
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Mezzina, Mauro
RA   Sarasin, Alain
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; PMCID=PMC23065;
RA   Taylor, Elaine M.
RA   Broughton, Bernard C.
RA   Botta, Elena
RA   Stefanini, Miria
RA   Sarasin, Alain
RA   Jaspers, Nicolaas G.J.
RA   Fawcett, Heather
RA   Harcourt, Susan A.
RA   Arlett, Colin Francis
RA   Lehmann, Alan Robert
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=7471106;
RA   Arlett, Colin Francis
RA   Harcourt, Susan A.
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(1980).
//
RX   PubMed=11219864; DOI=10.1093/carcin/1.9.745;
RA   Arlett, Colin Francis
RA   Harcourt, Susan A.
RA   Lehmann, Alan Robert
RA   Stevens, Sean
RA   Ferguson-Smith, Malcolm Andrew
RA   Morley, W. Neil
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=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013;
RA   Miskin, Ruth
RA   Ben-Ishai, Ruth
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=6492896; DOI=10.1016/0047-6374(84)90044-7;
RA   Cleaver, James Edward
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=8055625; DOI=10.1093/carcin/15.8.1493;
RA   Mezzina, Mauro
RA   Eveno, Eric
RA   Chevallier-Lagente, Odile
RA   Benoit, Annie
RA   Carreau, Madeleine
RA   Vermeulen, Wim
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Stefanini, Miria
RA   Lehmann, Alan Robert
RA   Weber, Christine A.
RA   Sarasin, Alain
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=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett, Colin Francis
RA   Green, Michael H.L.
RA   Rogers, Paul Bryan
RA   Lehmann, Alan Robert
RA   Plowman, Piers N.
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=4066782; DOI=10.1242/jcs.76.1.115;
RA   Johnson, Robert T.
RA   Squires, Shoshana
RA   Elliott, George C.
RA   Koch, Gordon L.E.
RA   Rainbow, Andrew 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=7059984;
RA   Cleaver, James Edward
RT   "Inactivation of ultraviolet repair in normal and xeroderma
RT   pigmentosum cells by methyl methanesulfonate.";
RL   Cancer Res. 42:860-863(1982).
//
RX   DOI=10.1007/978-1-4757-5016-4_9;
RA   Jaspers, Nicolaas G.J.
RA   Roza, Len
RA   Vermeulen, Wim
RA   Eker, Andre P.M.
RA   Taalman, Rob Desire F.M.
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Bootsma, Dirk
RT   "In vitro correction of cells from patients with mutagen
RT   hypersensitivity.";
RL   (In book chapter) DNA damage and repair; Castellani, Amleto (eds.); pp.73-82; Springer; Boston; USA (1989).
//
RX   PubMed=14688028; DOI=10.1093/carcin/bgh046;
RA   Arbault, Stephane
RA   Sojic, Neso
RA   Bruce, Delphine
RA   Amatore, Christian
RA   Sarasin, Alain
RA   Vuillaume, Monique
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=3347209; DOI=10.1016/0167-8817(88)90048-x;
RA   Squires, Shoshana
RA   Johnson, Robert 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).
//