ID   XP34BR
AC   CVCL_ZN30
SY   Xeroderma Pigmentosum 34 BRighton
DR   Wikidata; Q98135708
RX   PubMed=18079351;
RX   PubMed=26884178;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala818Val (c.2453C>T); ClinVar=VCV000996657; Zygosity=Heterozygous (PubMed=26884178).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Thr863fs (c.2586_2587delTA); Zygosity=Heterozygous (PubMed=26884178).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
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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).
//
RX   PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618;
RA   Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S.,
RA   Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I.,
RA   Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D.,
RA   Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R.,
RA   Sarkany R.P.E., Lehmann A.R.;
RT   "Deep phenotyping of 89 xeroderma pigmentosum patients reveals
RT   unexpected heterogeneity dependent on the precise molecular defect.";
RL   Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016).
//