Cellosaurus cell line XP12PV (CVCL

Cross-references
Cell line name	XP12PV
Synonyms	Xeroderma Pigmentosum 12 PaVia
Accession	CVCL_RU35
Resource Identification Initiative	To cite this cell line use: XP12PV (RRID:CVCL_RU35)
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:12816; XPC; Simple; p.Pro43Glnfs*36 (c.128delC); ClinVar=VCV000551235; Zygosity=Homozygous (PubMed=10766188).
Disease	Xeroderma pigmentosum, complementation group C (NCIt: C114770) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	5Y
Category	Finite cell line
Publications	PubMed=10766188 Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A., Lehmann A.R., Stefanini M. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res. 60:1974-1982(2000)
Cell line databases/resources	CLO; CLO_0009656 CLDB; cl4750
Encyclopedic resources	Wikidata; Q54994880
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10