ID   XP62RO
AC   CVCL_ZP54
SY   Xeroderma Pigmentosum 62 ROtterdam
DR   Wikidata; Q98136008
RX   PubMed=20221251;
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Homozygous (PubMed=20221251).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3968; Xeroderma pigmentosum, complementation group F
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669;
RA   Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A.,
RA   Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W.,
RA   Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.;
RT   "Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA
RT   repair in XP-F patients.";
RL   PLoS Genet. 6:E1000871-E1000871(2010).
//