ID   XP32BR
AC   CVCL_ZP53
SY   Xeroderma Pigmentosum 32 BRighton
DR   Wikidata; Q98135693
RX   PubMed=20221251;
RX   PubMed=26884178;
RX   PubMed=30165384;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Pro379Ser (c.1135C>T); ClinVar=VCV000134148; Zygosity=Heterozygous (PubMed=20221251; PubMed=26884178).
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg589Trp (c.1765C>T); ClinVar=VCV000055829; Zygosity=Heterozygous (PubMed=20221251; PubMed=26884178).
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)
SX   Male
AG   12Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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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).
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RX   PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618;
RA   Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S.,
RA   Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I.,
RA   Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D.,
RA   Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R.,
RA   Sarkany R.P.E., Lehmann A.R.;
RT   "Deep phenotyping of 89 xeroderma pigmentosum patients reveals
RT   unexpected heterogeneity dependent on the precise molecular defect.";
RL   Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016).
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RX   PubMed=30165384; DOI=10.1093/nar/gky774; PMCID=PMC6182131;
RA   Sabatella M., Theil A.F., Ribeiro-Silva C., Slyskova J., Thijssen K.,
RA   Voskamp C., Lans H., Vermeulen W.;
RT   "Repair protein persistence at DNA lesions characterizes XPF defect
RT   with Cockayne syndrome features.";
RL   Nucleic Acids Res. 46:9563-9577(2018).
//