Cellosaurus cell line XP16PV (CVCL

Cellosaurus XP16PV (CVCL_RU39)

Cross-references
Cell line name	XP16PV
Synonyms	Xeroderma Pigmentosum 16 PaVia
Accession	CVCL_RU39
Resource Identification Initiative	To cite this cell line use: XP16PV (RRID:CVCL_RU39)
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	8Y
Category	Finite cell line
Publications	PubMed=7671243 Eric Eveno, Francois Bourre, Xavier Quilliet, Odile Chevallier-Lagente, Len Roza, Andre P.M. Eker, Wim J. Kleijer, Osamu Nikaido, Miria Stefanini, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma ...Show all 14 authors... , James Edward Cleaver, Alain Sarasin, Mauro Mezzina; Show fewer authors Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases. Cancer Res. 55:4325-4332(1995) 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 Robert 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)
Cell line databases/resources	CLO; CLO_0009660 CLDB; cl4754
Encyclopedic resources	Wikidata; Q54994890
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	9