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 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)
Encyclopedic resources	Wikidata; Q98135570
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7