ID   XP89BR
AC   CVCL_ZR96
SY   Xeroderma Pigmentosum 89 BRighton
DR   Wikidata; Q98136170
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   Female
AG   43Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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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).
//