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Cellosaurus XP117BR (CVCL_ZV00)

[Text version]
Cell line name XP117BR
Synonyms Xeroderma Pigmentosum 117 BRighton
Accession CVCL_ZV00
Resource Identification Initiative To cite this cell line use: XP117BR (RRID:CVCL_ZV00)
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:12816; XPC; Simple; c.299+2delT; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=26884178).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Gly810Alafs*9 (c.2429_2441del13); Zygosity=Heterozygous (PubMed=26884178).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling 5Y
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; Q98135233
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8