ID   XP115LO 2
AC   CVCL_7358
SY   Xeroderma Pigmentosum 115 LOndon 2; GM02359; GM2359
DR   CLO; CLO_0033108
DR   BioSample; SAMN00807735
DR   Coriell; GM02359
DR   Wikidata; Q54837457
RX   CelloPub=CLPUB00447;
RX   PubMed=3010096;
RX   PubMed=6492896;
RX   PubMed=7326997;
RX   PubMed=10398605;
RX   PubMed=10655550;
RX   PubMed=17409408;
RX   PubMed=26884178;
CC   Population: Iranian.
CC   Senescence: Senesces at 28 PDL (PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Gln373Ter (c.1117C>T); ClinVar=VCV000005890; Zygosity=Homozygous (PubMed=10398605; PubMed=26884178).
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)
OI   CVCL_ZP87 ! XP115LO 1
SX   Male
AG   25Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 18
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0;
RA   Barbis D.P., Schultz R.A., Friedberg E.C.;
RT   "Isolation and partial characterization of virus-transformed cell
RT   lines representing the A, G and variant complementation groups of
RT   xeroderma pigmentosum.";
RL   Mutat. Res. 165:175-184(1986).
//
RX   PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7;
RA   Cleaver J.E.;
RT   "DNA repair deficiencies and cellular senescence are unrelated in
RT   xeroderma pigmentosum cell lines.";
RL   Mech. Ageing Dev. 27:189-196(1984).
//
RX   PubMed=7326997; DOI=10.1159/000131646;
RA   Cleaver J.E., Greene A.E., Coriell L.L., Mulivor R.A.;
RT   "Xeroderma pigmentosum variants.";
RL   Cytogenet. Cell Genet. 31:188-192(1981).
//
RX   PubMed=10398605; DOI=10.1126/science.285.5425.263;
RA   Johnson R.E., Kondratick C.M., Prakash S., Prakash L.;
RT   "hRAD30 mutations in the variant form of xeroderma pigmentosum.";
RL   Science 285:263-265(1999).
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RX   PubMed=10655550; DOI=10.1093/hmg/9.3.403;
RA   Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.;
RT   "The establishment of telomerase-immortalized cell lines representing
RT   human chromosome instability syndromes.";
RL   Hum. Mol. Genet. 9:403-411(2000).
//
RX   PubMed=17409408; DOI=10.1158/0008-5472.CAN-06-3073;
RA   Wang Y., Woodgate R., McManus T.P., Mead S., McCormick J.J.,
RA   Maher V.M.;
RT   "Evidence that in xeroderma pigmentosum variant cells, which lack DNA
RT   polymerase eta, DNA polymerase iota causes the very high frequency and
RT   unique spectrum of UV-induced mutations.";
RL   Cancer Res. 67:3018-3026(2007).
//
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).
//