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Cellosaurus XP43KO (CVCL_ZM24)

[Text version]
Cell line name XP43KO
Synonyms Xeroderma Pigmentosum 43 KObe
Accession CVCL_ZM24
Resource Identification Initiative To cite this cell line use: XP43KO (RRID:CVCL_ZM24)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Asp234Asn (c.700G>A); Zygosity=Heterozygous (PubMed=9238033).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg601Leu (c.1802G>T); Zygosity=Heterozygous (PubMed=9238033).
Disease Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 31Y
Category Finite cell line
Publications

PubMed=3341805; DOI=10.1001/archderm.1988.01670020074021
Ichihashi M., Yamamura K., Hiramoto T., Fujiwara Y.
No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D.
Arch. Dermatol. 124:256-260(1988)

PubMed=9238033; DOI=10.1073/pnas.94.16.8658; PMCID=PMC23065
Taylor E.M., Broughton B.C., Botta E., Stefanini M., Sarasin A., Jaspers N.G.J., Fawcett H., Harcourt S.A., Arlett C.F., Lehmann A.R.
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997)

Cross-references
Encyclopedic resources Wikidata; Q98135824
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8