ID   XP111LO
AC   CVCL_ZN36
SY   Xeroderma Pigmentosum 111 LOndon
DR   Wikidata; Q98135214
RX   PubMed=1372100;
RX   PubMed=9238033;
RX   PubMed=18079351;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg616Pro (c.1847G>C); ClinVar=VCV000329508; Zygosity=Heterozygous (PubMed=9238033).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=9238033).
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)
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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).
//
RX   PubMed=9238033; DOI=10.1073/pnas.94.16.8658; PMCID=PMC23065;
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=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).
//