ID   XP33BR
AC   CVCL_V273
SY   Xeroderma Pigmentosum 33 BRighton; GM21071
DR   CLO; CLO_0015393
DR   Coriell; GM21071
DR   Wikidata; Q54851622
RX   PubMed=16947863;
RX   PubMed=26884178;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe99Ser (c.296T>C); ClinVar=VCV000016583; Zygosity=Heterozygous (PubMed=16947863).
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Arg425Ter (c.1273C>T); ClinVar=VCV000016585; Zygosity=Heterozygous (PubMed=16947863).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3966; Xeroderma pigmentosum, complementation group B
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V275 ! XP33BR LCL
SX   Female
AG   44Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
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RX   PubMed=16947863; DOI=10.1002/humu.20392;
RA   Oh K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A.R.,
RA   Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A.,
RA   Baker C.C., Kraemer K.H.;
RT   "Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3):
RT   xeroderma pigmentosum without and with Cockayne syndrome.";
RL   Hum. Mutat. 27:1092-1103(2006).
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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).
//