Cellosaurus cell line XP19PV (CVCL

Cross-references
Cell line name	XP19PV
Synonyms	Xeroderma Pigmentosum 19 PaVia
Accession	CVCL_RU42
Resource Identification Initiative	To cite this cell line use: XP19PV (RRID:CVCL_RU42)
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.Pro43Glnfs36 (c.128delC); ClinVar=VCV000551235; Zygosity=Heterozygous (PubMed=10766188). Mutation; HGNC; HGNC:12816; XPC; Simple; p.Gln368Argfs6 (c.1103_1104delAA) (delAA1208-1209); ClinVar=VCV000267279; Zygosity=Heterozygous (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	4Y
Category	Finite cell line
Publications	PubMed=10766188 Franz Chavanne, Bernard C. Broughton, Daniela Pietra, Tiziana Nardo, Alison Browitt, Alan Robert Lehmann, Miria Stefanini; 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_0009664 CLDB; cl4757
Encyclopedic resources	Wikidata; Q54994898
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11