ID   XP8BR
AC   CVCL_W051
SY   Xeroderma Pigmentosum 8 BRighton
DR   Wikidata; Q54994971
RX   PubMed=1372100;
RX   PubMed=7825573;
RX   PubMed=18079351;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg669Glyfs*40 (c.2005delA); ClinVar=VCV000445466; Zygosity=Heterozygous (PubMed=7825573).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly675Arg (c.2023G>C); Zygosity=Heterozygous (PubMed=7825573).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2560 ! XP8BR LCL
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
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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=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=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).
//