ID   XP49BR
AC   CVCL_ZR90
SY   Xeroderma Pigmentosum 49 BRighton
DR   Wikidata; Q98135853
RX   PubMed=26743599;
CC   Population: Afghan.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.555+8A>G; ClinVar=VCV000852033; Zygosity=Homozygous (PubMed=26743599).
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   38Y
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).
//