ID   XP30BR
AC   CVCL_ZV12
SY   Xeroderma Pigmentosum 30 BRighton
DR   Wikidata; Q98135669
RX   PubMed=26884178;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Phe610Leufs*90 (c.1827delC); Zygosity=Heterozygous (PubMed=26884178).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Gln (c.2048G>A); ClinVar=VCV000264679; Zygosity=Heterozygous (PubMed=26884178).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   21Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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).
//