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 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_0009664 CLDB; cl4757
Encyclopedic resources	Wikidata; Q54994898
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11