ID   XP30RO
AC   CVCL_7395
AS   CVCL_G334; CVCL_IM58
SY   XP3ORO; XP-V XP30RO; XP-V (XP30RO); GM03617; GM03617A; GM3617; IMG-991 XP3ORO; IMG-991
DR   BTO; BTO:0004753
DR   CLO; CLO_0006939
DR   CLO; CLO_0017188
DR   CLDB; cl2871
DR   Coriell; GM03617
DR   Wikidata; Q54994917
RX   CelloPub=CLPUB00447;
RX   PubMed=837385;
RX   PubMed=1214825;
RX   PubMed=4778857;
RX   PubMed=6096694;
RX   PubMed=6947227;
RX   PubMed=7067035;
RX   PubMed=7326997;
RX   PubMed=7471106;
RX   PubMed=7565859;
RX   PubMed=10022907;
RX   PubMed=10385124;
RX   PubMed=10398605;
RX   PubMed=11773631;
RX   PubMed=16520097;
CC   Population: Lebanese.
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Ala35fs (c.104_116del); Zygosity=Homozygous (PubMed=10385124; PubMed=10398605).
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   30Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 25
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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=1214825; DOI=10.1016/0027-5107(75)90209-2;
RA   Arlett C.F., Harcourt S.A., Broughton B.C.;
RT   "The influence of caffeine on cell survival in excision-proficient and
RT   excision-deficient xeroderma pigmentosum and normal human cell strains
RT   following ultraviolet-light irradiation.";
RL   Mutat. Res. 33:341-346(1975).
//
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).
//
RX   PubMed=6096694; DOI=10.1128/mcb.4.11.2341-2346.1984;
RA   Abrahams P.J., Huitema B.A., van der Eb A.J.;
RT   "Enhanced reactivation and enhanced mutagenesis of herpes simplex
RT   virus in normal human and xeroderma pigmentosum cells.";
RL   Mol. Cell. Biol. 4:2341-2346(1984).
//
RX   PubMed=6947227; DOI=10.1073/pnas.78.10.6236;
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=7067035; DOI=10.1093/carcin/3.1.33;
RA   Teo I.A., Arlett C.F.;
RT   "The response of a variety of human fibroblast cell strains to the
RT   lethal effects of alkylating agents.";
RL   Carcinogenesis 3:33-37(1982).
//
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=7471106;
RA   Arlett C.F., Harcourt S.A.;
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(1980).
//
RX   PubMed=7565859; DOI=10.1016/0921-8777(95)00015-C;
RA   Volpe J.P.G., Cleaver J.E.;
RT   "Xeroderma pigmentosum variant cells are resistant to
RT   immortalization.";
RL   Mutat. Res. 337:111-117(1995).
//
RX   PubMed=10022907; DOI=10.1128/mcb.19.3.2206;
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=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=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).
//
RX   PubMed=11773631; DOI=10.1073/pnas.022473899;
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=16520097; DOI=10.1016/j.dnarep.2006.01.008;
RA   Cruet-Hennequart S., Coyne S., Glynn M.T., Oakley G.G., Carty M.P.;
RT   "UV-induced RPA phosphorylation is increased in the absence of DNA
RT   polymerase eta and requires DNA-PK.";
RL   DNA Repair 5:491-504(2006).
//