ID   XP23VI
AC   CVCL_ZN44
SY   Xeroderma Pigmentosum 23 VIllejuif
DR   Wikidata; Q98135570
RX   PubMed=9238033;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (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   Sex unspecified
AG   20Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
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).
//