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Cellosaurus XPLA-Be (CVCL_ZN42)

[Text version]
Cell line name XPLA-Be
Synonyms XPLABE
Accession CVCL_ZN42
Resource Identification Initiative To cite this cell line use: XPLA-Be (RRID:CVCL_ZN42)
Comments 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.Tyr542Cys (c.1625A>G); Zygosity=Heterozygous (PubMed=9238033).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg616Pro (c.1847G>C); ClinVar=VCV000329508; 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 15Y
Category Finite cell line
Publications

PubMed=2913963; DOI=10.1001/archderm.1989.01670140115022
Kraemer K.H., Herlyn M., Yuspa S.H., Clark W.H. Jr., Townsend G.K., Neises G.R., Hearing V.J.
Reduced DNA repair in cultured melanocytes and nevus cells from a patient with xeroderma pigmentosum.
Arch. Dermatol. 125:263-268(1989)

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; Q98136349
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8