Cellosaurus cell line XP62RO (CVCL

Cross-references
Cell line name	XP62RO
Synonyms	Xeroderma Pigmentosum 62 ROtterdam
Accession	CVCL_ZP54
Resource Identification Initiative	To cite this cell line use: XP62RO (RRID:CVCL_ZP54)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Homozygous (PubMed=20221251).
Disease	Xeroderma pigmentosum, complementation group F (NCIt: C3968) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669 Anwaar Ahmad, Jacqueline Henriette Enzlin, Nikhil R. Bhagwat, Nils Wijgers, Anja Raams, Esther Appledoorn, Arjan F. Theil, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen, Nicolaas G.J. Jaspers, Orlando David Scharer, Laura J. Niedernhofer; Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. PLoS Genet. 6:e1000871.1-e1000871.11(2010)
Encyclopedic resources	Wikidata; Q98136008
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7