ID   XP11BR
AC   CVCL_W049
SY   XP11 BR; Xeroderma Pigmentosum 11 BRighton
DR   Wikidata; Q54994867
RX   PubMed=1372096;
RX   PubMed=1372100;
RX   PubMed=10022907;
RX   PubMed=11773631;
RX   PubMed=18079351;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Gly263Val (c.788G>T); dbSNP=rs1413703153; Zygosity=Homozygous (PubMed=11773631).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2556 ! XP11BR LCL
SX   Male
AG   62Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
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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=10022907; DOI=10.1128/mcb.19.3.2206; PMCID=PMC84013;
RA   Cordonnier A.M., Lehmann A.R., Fuchs R.P.P.;
RT   "Impaired translesion synthesis in xeroderma pigmentosum variant
RT   extracts.";
RL   Mol. Cell. Biol. 19:2206-2211(1999).
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RX   PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388;
RA   Broughton B.C., Cordonnier A.M., Kleijer W.J., Jaspers N.G.J.,
RA   Fawcett H., Raams A., Garritsen V.H., Stary A., Avril M.-F.,
RA   Boudsocq F., Masutani C., Hanaoka F., Fuchs R.P.P., Sarasin A.,
RA   Lehmann A.R.;
RT   "Molecular analysis of mutations in DNA polymerase eta in xeroderma
RT   pigmentosum-variant patients.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002).
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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).
//