Cellosaurus cell line XP15PV (CVCL

Cross-references
Cell line name	XP15PV
Synonyms	Xeroderma Pigmentosum 15 PaVia
Accession	CVCL_RU38
Resource Identification Initiative	To cite this cell line use: XP15PV (RRID:CVCL_RU38)
Comments	From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy. Population: Caucasian. 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.Arg683Gln (c.2048G>A); ClinVar=VCV000264679; 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	Female
Age at sampling	2Y
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)
Cell line databases/resources	CLO; CLO_0009659 CLDB; cl4753
Encyclopedic resources	Wikidata; Q54994886
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	9