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Cellosaurus XP9BI (CVCL_ZR83)

[Text version]
Cell line name XP9BI
Synonyms Xeroderma Pigmentosum 9 BIrmingham
Accession CVCL_ZR83
Resource Identification Initiative To cite this cell line use: XP9BI (RRID:CVCL_ZR83)
Comments Population: Pakistani.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Publications

PubMed=26743599; DOI=10.1016/j.jid.2015.12.031
Sethi M., Haque S., Fawcett H., Wing J.F., Chandler N., Mohammed S., Frayling I.M., Norris P.G., McGibbon D., Young A.R., Sarkany R.P.E., Lehmann A.R., Fassihi H.
A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in Northern India/Pakistan/Afghanistan.
J. Invest. Dermatol. 136:869-872(2016)

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; Q98136243
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7