Cellosaurus cell line XP10PV (CVCL

Cellosaurus XP10PV (CVCL_RU33)

Cross-references
Cell line name	XP10PV
Synonyms	Xeroderma Pigmentosum 10 PaVia
Accession	CVCL_RU33
Resource Identification Initiative	To cite this cell line use: XP10PV (RRID:CVCL_RU33)
Comments	From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy. 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.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; 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	Female
Age at sampling	15Y
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) PubMed=11511294; DOI=10.1046/j.1523-1747.2001.01424.x Engin Mevlut Gozukara, Sikandar G. Khan, Ahmet Metin, Steffen Emmert, David B. Busch, Tala Shahlavi, Donna M. Coleman, Mark Miller, Nonglux Chinsomboon, Miria Stefanini, Kenneth H. Kraemer; A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J. Invest. Dermatol. 117:197-204(2001)
Cell line databases/resources	CLO; CLO_0009654 CLDB; cl4748
Encyclopedic resources	Wikidata; Q54994866
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10