ID   XP4BE
AC   CVCL_U668
SY   Xeroderma Pigmentosum 4 BEthesda; Wo Mec; WoMec
DR   ATCC; CRL-1162
DR   Wikidata; Q54994359
RX   PubMed=225015;
RX   PubMed=273925;
RX   PubMed=503099;
RX   PubMed=656543;
RX   PubMed=837385;
RX   PubMed=3932847;
RX   PubMed=4811796;
RX   PubMed=6409440;
RX   PubMed=6947227;
RX   PubMed=7273335;
RX   PubMed=10385124;
RX   PubMed=11773631;
RX   PubMed=17409408;
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Phe18Serfs*12 (c.52_55delTTTG) (del 289-292); ClinVar=VCV000005885; Zygosity=Unspecified (PubMed=10385124).
CC   Discontinued: ATCC; CRL-1162; true.
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   27Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
//
RX   PubMed=225015;
RA   Hall J.D., Tokuno S.-i.;
RT   "Enhanced transformation of xeroderma pigmentosum variant cells by
RT   ultraviolet light-irradiated simian virus 40.";
RL   Cancer Res. 39:4064-4068(1979).
//
RX   PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467;
RA   Andrews A.D., Barrett S.F., Robbins J.H.;
RT   "Xeroderma pigmentosum neurological abnormalities correlate with
RT   colony-forming ability after ultraviolet radiation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978).
//
RX   PubMed=503099; DOI=10.1016/0027-5107(79)90089-7;
RA   Myhr B.C., Turnbull D., DiPaolo J.A.;
RT   "Ultraviolet mutagenesis of normal and xeroderma pigmentosum variant
RT   human fibroblasts.";
RL   Mutat. Res. 62:341-353(1979).
//
RX   PubMed=656543; DOI=10.1016/S0006-3495(78)85487-3; PMCID=PMC1473442;
RA   Ehmann U.K., Cook K.H., Friedberg E.C.;
RT   "The kinetics of thymine dimer excision in ultraviolet-irradiated
RT   human cells.";
RL   Biophys. J. 22:249-264(1978).
//
RX   PubMed=837385;
RA   Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A.,
RA   de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.;
RT   "Repair of ultraviolet light damage in a variety of human fibroblast
RT   cell strains.";
RL   Cancer Res. 37:904-910(1977).
//
RX   PubMed=3932847; DOI=10.1016/0167-8817(85)90070-7;
RA   Watanabe M., Maher V.M., McCormick J.J.;
RT   "Excision repair of UV- or benzo[a]pyrene diol epoxide-induced lesions
RT   in xeroderma pigmentosum variant cells is 'error free'.";
RL   Mutat. Res. 146:285-294(1985).
//
RX   PubMed=4811796; DOI=10.7326/0003-4819-80-2-221;
RA   Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., Coon H.G.;
RT   "Xeroderma pigmentosum. An inherited disease with sun sensitivity,
RT   multiple cutaneous neoplasms, and abnormal DNA repair.";
RL   Ann. Intern. Med. 80:221-248(1974).
//
RX   PubMed=6409440; DOI=10.1093/carcin/4.7.911;
RA   Smith P.J., Greene M.H., Adams D., Paterson M.C.;
RT   "Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of
RT   cultured fibroblasts from patients with dysplastic nevus syndrome and
RT   hereditary cutaneous malignant melanoma.";
RL   Carcinogenesis 4:911-916(1983).
//
RX   PubMed=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013;
RA   Miskin R., Ben-Ishai R.;
RT   "Induction of plasminogen activator by UV light in normal and
RT   xeroderma pigmentosum fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981).
//
RX   PubMed=7273335; DOI=10.1093/carcin/2.6.567;
RA   Simon L., Hazard R.M., Maher V.M., McCormick J.J.;
RT   "Enhanced cell killing and mutagenesis by ethylnitrosourea in
RT   xeroderma pigmentosum cells.";
RL   Carcinogenesis 2:567-570(1981).
//
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).
//
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=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).
//