ID   XP1RO
AC   CVCL_ZP95
SY   Xeroderma Pigmentosum 1 ROtterdam
DR   Wikidata; Q98135478
RX   PubMed=4778857;
RX   PubMed=10385124;
RX   PubMed=11773631;
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Trp297Ter (c.890G>A); ClinVar=VCV000005888; Zygosity=Heterozygous (PubMed=10385124).
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Unexplicit; Large deletion; Zygosity=Heterozygous (PubMed=10385124).
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   Male
AG   48Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6;
RA   Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W.,
RA   de Wit J., Bootsma D.;
RT   "UV-induced DNA repair synthesis in cells of patients with different
RT   forms of xeroderma pigmentosum and of heterozygotes.";
RL   Mutat. Res. 20:417-428(1973).
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RX   PubMed=10385124; DOI=10.1038/21447;
RA   Masutani C., Kusumoto R., Yamada A., Dohmae N., Yokoi M., Yuasa M.,
RA   Araki M., Iwai S., Takio K., Hanaoka F.;
RT   "The XPV (xeroderma pigmentosum variant) gene encodes human DNA
RT   polymerase eta.";
RL   Nature 399:700-704(1999).
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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).
//