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Cellosaurus XP33BR (CVCL_V273)

[Text version]
Cell line name XP33BR
Synonyms Xeroderma Pigmentosum 33 BRighton; GM21071
Accession CVCL_V273
Resource Identification Initiative To cite this cell line use: XP33BR (RRID:CVCL_V273)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Xeroderma pigmentosum, complementation group B (NCIt: C3966)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_V275 ! XP33BR LCL
Sex of cell Female
Age at sampling 44Y
Category Finite cell line
Publications

PubMed=16947863; DOI=10.1002/humu.20392
Oh K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A.R., Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A., Baker C.C., Kraemer K.H.
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum. Mutat. 27:1092-1103(2006)

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S., Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I., Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D., Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R., Sarkany R.P.E., Lehmann A.R.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016)

Cross-references
Cell line collections (Providers) Coriell; GM21071
Cell line databases/resources CLO; CLO_0015393
Encyclopedic resources Wikidata; Q54851622
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number13