Cellosaurus cell line XP17PV (CVCL

Cross-references
Cell line name	XP17PV
Synonyms	Xeroderma Pigmentosum 17 PaVia
Accession	CVCL_RU40
Resource Identification Initiative	To cite this cell line use: XP17PV (RRID:CVCL_RU40)
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.Arg616Pro (c.1847G>C); ClinVar=VCV000329508; Zygosity=Heterozygous (PubMed=7585650). Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=7585650).
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	Male
Age at sampling	33Y
Category	Finite cell line
Publications	PubMed=7585650 Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H., Weber C.A. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Cancer Res. 55:5656-5663(1995)
Cell line databases/resources	CLO; CLO_0009662 CLDB; cl4755
Encyclopedic resources	Wikidata; Q54994892
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11