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 Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J. Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. PLoS Genet. 6:E1000871-E1000871(2010)
Encyclopedic resources	Wikidata; Q98136008
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7