• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Gln373Ter (c.1117C>T); ClinVar=VCV000005890; Zygosity=Homozygous (PubMed=10398605; PubMed=26884178).
  

PubMed=7326997; DOI=10.1159/000131646
James Edward Cleaver, Arthur E. Greene, Lewis Lemon Coriell, Richard A. Mulivor;
Xeroderma pigmentosum variants.
Cytogenet. Cell Genet. 31:188-192(1981)

PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7
James Edward Cleaver;
DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines.
Mech. Ageing Dev. 27:189-196(1984)

PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0
Dina P. Barbis, Roger A. Schultz, Errol Clive Friedberg;
Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum.
Mutat. Res. 165:175-184(1986)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=10398605; DOI=10.1126/science.285.5425.263
Robert E. Johnson, Christine M. Kondratick, Satya Prakash, Louise Prakash;
hRAD30 mutations in the variant form of xeroderma pigmentosum.
Science 285:263-265(1999)

PubMed=10655550; DOI=10.1093/hmg/9.3.403
Michel M. Ouellette, Lisa D. McDaniel, Woodring Erik Wright, Jerry W. Shay, Roger A. Schultz;
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000)

PubMed=17409408; DOI=10.1158/0008-5472.CAN-06-3073
Yun Wang, Roger Woodgate, Terrence P. McManus, Samantha Mead, J. Justin McCormick, Veronica M. Maher;
Evidence that in xeroderma pigmentosum variant cells, which lack DNA polymerase eta, DNA polymerase iota causes the very high frequency and unique spectrum of UV-induced mutations.
Cancer Res. 67:3018-3026(2007)

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana M.S. Morley, Rong-Xuan Lim, Sally Turner, Tanya Henshaw ...Show all 25 authors... , Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert Paul Edmond Sarkany, Alan R. Lehmann; Show fewer authors
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016)