ID XP1PR AC CVCL_ZR81 DR Wikidata; Q98135476 RX PubMed=26743599; RX PubMed=26884178; CC Population: Pakistani. CC Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.555+8A>G; ClinVar=VCV000852033; Zygosity=Homozygous (PubMed=26743599; PubMed=26884178). CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C3965; Xeroderma pigmentosum, complementation group A DI ORDO; Orphanet_910; Xeroderma pigmentosum OX NCBI_TaxID=9606; ! Homo sapiens (Human) SX Male AG 35Y CA Finite cell line DT Created: 02-07-20; Last updated: 19-12-24; Version: 7 // RX PubMed=26743599; DOI=10.1016/j.jid.2015.12.031; RA Sethi M., Haque S., Fawcett H., Wing J.F., Chandler N., Mohammed S., RA Frayling I.M., Norris P.G., McGibbon D., Young A.R., Sarkany R.P.E., RA Lehmann A.R., Fassihi H.; RT "A distinct genotype of XP complementation group A: surprisingly mild RT phenotype highly prevalent in Northern India/Pakistan/Afghanistan."; RL J. Invest. Dermatol. 136:869-872(2016). // RX PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618; RA Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S., RA Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I., RA Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D., RA Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R., RA Sarkany R.P.E., Lehmann A.R.; RT "Deep phenotyping of 89 xeroderma pigmentosum patients reveals RT unexpected heterogeneity dependent on the precise molecular defect."; RL Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016). //