Cellosaurus cell line XP23VI (CVCL

Cross-references
Cell line name	XP23VI
Synonyms	Xeroderma Pigmentosum 23 VIllejuif
Accession	CVCL_ZN44
Resource Identification Initiative	To cite this cell line use: XP23VI (RRID:CVCL_ZN44)
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.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (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	Sex unspecified
Age at sampling	20Y
Category	Finite cell line
Publications	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)
Encyclopedic resources	Wikidata; Q98135570
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7