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Cellosaurus XP34BR (CVCL_ZN30)

[Text version]
Cell line name XP34BR
Synonyms Xeroderma Pigmentosum 34 BRighton
Accession CVCL_ZN30
Resource Identification Initiative To cite this cell line use: XP34BR (RRID:CVCL_ZN30)
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:3437; ERCC5; Simple; p.Ala818Val (c.2453C>T); ClinVar=VCV000996657; Zygosity=Heterozygous (PubMed=26884178).
  • Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Thr863fs (c.2586_2587delTA); Zygosity=Heterozygous (PubMed=26884178).
Disease Xeroderma pigmentosum, complementation group G (NCIt: C3969)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 20Y
Category Finite cell line
Publications

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)

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; Q98135708
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number9