Cellosaurus logo
expasy logo

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
Masamitsu Ichihashi, Keizo Yamamura, Takeaki Hiramoto, Yoshisada Fujiwara;
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
Elaine M. Taylor, Bernard C. Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G.J. Jaspers, Heather Fawcett, Susan A. Harcourt, Colin Francis Arlett, Alan R. Lehmann;
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