ID   XP51RO
AC   CVCL_ZP55
SY   Xeroderma Pigmentosum 51 ROtterdam; XFE
DR   Wikidata; Q98135908
RX   PubMed=17183314;
RX   PubMed=20221251;
CC   Population: Afghan.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg153Pro (c.458G>C); ClinVar=VCV000016581; Zygosity=Homozygous (PubMed=17183314; PubMed=20221251).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173111; XFE progeroid syndrome
DI   ORDO; Orphanet_363245; Genetic progeroid syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=17183314; DOI=10.1038/nature05456;
RA   Niedernhofer L.J., Garinis G.A., Raams A., Lalai A.S., Robinson A.R.,
RA   Appeldoorn E., Odijk H., Oostendorp R.L., Ahmad A., van Leeuwen W.,
RA   Theil A.F., Vermeulen W., van der Horst G.T.J., Meinecke P.,
RA   Kleijer W.J., Vijg J., Jaspers N.G.J., Hoeijmakers J.H.J.;
RT   "A new progeroid syndrome reveals that genotoxic stress suppresses the
RT   somatotroph axis.";
RL   Nature 444:1038-1043(2006).
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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:e1000871.1-e1000871.11(2010).
//