ID   XP9MA
AC   CVCL_ZN41
DR   Wikidata; Q98136253
RX   PubMed=2054785;
RX   PubMed=7165374;
RX   PubMed=9238033;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Gln (c.2048G>A); ClinVar=VCV000264679; 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   Female
AG   11Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=2054785;
RA   Thielmann H.W., Popanda O., Edler L., Jung E.G.;
RT   "Clinical symptoms and DNA repair characteristics of xeroderma
RT   pigmentosum patients from Germany.";
RL   Cancer Res. 51:3456-3470(1991).
//
RX   PubMed=7165374; DOI=10.1007/BF00403726;
RA   Fischer E., Thielmann H.W., Neundorfer B., Rentsch F.J., Edler L.,
RA   Jung E.G.;
RT   "Xeroderma pigmentosum patients from Germany: clinical symptoms and
RT   DNA repair characteristics.";
RL   Arch. Dermatol. Res. 274:229-247(1982).
//
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).
//