ID   XP7BR
AC   CVCL_ZQ01
SY   Xeroderma Pigmentosum 7 BRighton
DR   Wikidata; Q98136104
RX   PubMed=10022907;
RX   PubMed=11773631;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Leu77del (c.222_224TCT[1]) (c.225_227delTCT) (L75del); ClinVar=VCV000005893; Zygosity=Heterozygous (PubMed=11773631).
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Ile255fs (Fs255); 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   60Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
//
RX   PubMed=10022907; DOI=10.1128/mcb.19.3.2206; PMCID=PMC84013;
RA   Cordonnier A.M., Lehmann A.R., Fuchs R.P.P.;
RT   "Impaired translesion synthesis in xeroderma pigmentosum variant
RT   extracts.";
RL   Mol. Cell. Biol. 19:2206-2211(1999).
//
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).
//