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Cellosaurus XP32BR (CVCL_ZP53)

[Text version]
Cell line name XP32BR
Synonyms Xeroderma Pigmentosum 32 BRighton
Accession CVCL_ZP53
Resource Identification Initiative To cite this cell line use: XP32BR (RRID:CVCL_ZP53)
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 F (NCIt: C3968)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Finite cell line
Publications

PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669
Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:E1000871-E1000871(2010)

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)

PubMed=30165384; DOI=10.1093/nar/gky774; PMCID=PMC6182131
Sabatella M., Theil A.F., Ribeiro-Silva C., Slyskova J., Thijssen K., Voskamp C., Lans H., Vermeulen W.
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Nucleic Acids Res. 46:9563-9577(2018)

Cross-references
Encyclopedic resources Wikidata; Q98135693
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8