ID   XP43KO
AC   CVCL_ZM24
SY   Xeroderma Pigmentosum 43 KObe
DR   Wikidata; Q98135824
RX   PubMed=3341805;
RX   PubMed=9238033;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Asp234Asn (c.700G>A); Zygosity=Heterozygous (PubMed=9238033).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg601Leu (c.1802G>T); 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   Female
AG   31Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=3341805; DOI=10.1001/archderm.1988.01670020074021;
RA   Ichihashi M., Yamamura K., Hiramoto T., Fujiwara Y.;
RT   "No apparent neurologic defect in a patient with xeroderma pigmentosum
RT   complementation group D.";
RL   Arch. Dermatol. 124:256-260(1988).
//
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).
//