ID   XP6BR
AC   CVCL_ZN51
SY   Xeroderma Pigmentosum 6 BRighton
DR   Wikidata; Q98136037
RX   PubMed=1372096;
RX   PubMed=1372100;
RX   PubMed=1911321;
RX   PubMed=7825573;
RX   PubMed=10766188;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Thr808Valfs*48 (c.2421_2604del184); Zygosity=Heterozygous (PubMed=10766188).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2558 ! XP6BR LCL
SX   Male
AG   67Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d;
RA   Arlett C.F., Harcourt S.A., Cole J., Green M.H.L., Anstey A.V.;
RT   "A comparison of the response of unstimulated and stimulated
RT   T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and
RT   trichothiodystrophy donors to the lethal action of UV-C.";
RL   Mutat. Res. 273:127-135(1992).
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RX   PubMed=1372100; DOI=10.1016/0921-8777(92)90078-H;
RA   Cole J., Arlett C.F., Norris P.G., Stephens G., Waugh A.P.W.,
RA   Beare D.M., Green M.H.L.;
RT   "Elevated hprt mutant frequency in circulating T-lymphocytes of
RT   xeroderma pigmentosum patients.";
RL   Mutat. Res. 273:171-178(1992).
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RX   PubMed=1911321; DOI=10.1111/j.1365-2133.1991.tb14754.x;
RA   Anstey A.V., Arlett C.F., Cole J., Norris P.G., Hamblin A.S.,
RA   Limb G.A., Lehmann A.R., Wilkinson J.D., Turner M.;
RT   "Long-term survival and preservation of natural killer cell activity
RT   in a xeroderma pigmentosum patient with spontaneous regression and
RT   multiple deposits of malignant melanoma.";
RL   Br. J. Dermatol. 125:272-278(1991).
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RX   PubMed=7825573; PMCID=PMC1801309;
RA   Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W.,
RA   Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A.,
RA   Cole J., Arlett C.F., Lehmann A.R.;
RT   "Molecular and cellular analysis of the DNA repair defect in a patient
RT   in xeroderma pigmentosum complementation group D who has the clinical
RT   features of xeroderma pigmentosum and Cockayne syndrome.";
RL   Am. J. Hum. Genet. 56:167-174(1995).
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RX   PubMed=10766188;
RA   Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A.,
RA   Lehmann A.R., Stefanini M.;
RT   "Mutations in the XPC gene in families with xeroderma pigmentosum and
RT   consequences at the cell, protein, and transcript levels.";
RL   Cancer Res. 60:1974-1982(2000).
//