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Cellosaurus XP85BR (CVCL_ZV29)

[Text version]
Cell line name XP85BR
Synonyms Xeroderma Pigmentosum 85 BRighton
Accession CVCL_ZV29
Resource Identification Initiative To cite this cell line use: XP85BR (RRID:CVCL_ZV29)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9181; POLH; Simple; c.490+3A>G; Zygosity=Heterozygous (PubMed=26884178).
  • Mutation; HGNC; HGNC:9181; POLH; Simple; p.Ala264Pro (c.790G>C); Zygosity=Heterozygous (PubMed=26884178).
Disease Xeroderma pigmentosum variant type (NCIt: C141367)
Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling 62Y
Category Finite cell line
Publications

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
Encyclopedic resources Wikidata; Q98136158
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8