ID   XP5BI
AC   CVCL_ZQ03
SY   Xeroderma Pigmentosum 5 BIrmingham
DR   Wikidata; Q98135971
RX   PubMed=11773631;
RX   PubMed=26884178;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Thr122Pro (c.364A>C); Zygosity=Heterozygous (PubMed=11773631).
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Thr408Leufs*36 (c.1222_1225delACTT) (Fs407); ClinVar=VCV002431387; Zygosity=Heterozygous (PubMed=11773631).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   7Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
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RX   PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388;
RA   Broughton B.C., Cordonnier A.M., Kleijer W.J., Jaspers N.G.J.,
RA   Fawcett H., Raams A., Garritsen V.H., Stary A., Avril M.-F.,
RA   Boudsocq F., Masutani C., Hanaoka F., Fuchs R.P.P., Sarasin A.,
RA   Lehmann A.R.;
RT   "Molecular analysis of mutations in DNA polymerase eta in xeroderma
RT   pigmentosum-variant patients.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002).
//
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).
//