ID   XP2RO
AC   CVCL_F496
SY   XP-2; Xeroderma Pigmentosum 2 ROtterdam; GM02415; GM-2415; GM 2415; GM2415; GM02415B; GM-1762; GM-708
DR   CLO; CLO_0033096
DR   ATCC; CRL-1259
DR   BioSample; SAMN00807747
DR   Coriell; GM00708
DR   Coriell; GM01762
DR   Coriell; GM02415
DR   JCRB; KURB1079
DR   JCRB; KURB1080
DR   Wikidata; Q54837471
RX   CelloPub=CLPUB00447;
RX   DOI=10.1007/978-1-4757-5016-4_9;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=273925;
RX   PubMed=837385;
RX   PubMed=1376435;
RX   PubMed=3010096;
RX   PubMed=3030788;
RX   PubMed=3922833;
RX   PubMed=4066782;
RX   PubMed=4778857;
RX   PubMed=4842087;
RX   PubMed=8798680;
RX   PubMed=8823375;
RX   PubMed=9584159;
RX   PubMed=10771487;
RX   PubMed=10777490;
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000008788; Zygosity=Homozygous (PubMed=8798680; PubMed=10777490).
CC   Discontinued: ATCC; CRL-1259; true.
CC   Discontinued: Coriell; GM00708; true.
CC   Discontinued: Coriell; GM01762; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114771; Xeroderma pigmentosum, complementation group E
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   34Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 24
//
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   DOI=10.1007/978-1-4757-5016-4_9;
RA   Jaspers N.G.J., Roza L., Vermeulen W., Eker A.P.M., Taalman R.D.F.M.,
RA   Hoeijmakers J.H.J., Bootsma D.;
RT   "In vitro correction of cells from patients with mutagen
RT   hypersensitivity.";
RL   (In) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston (1989).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=273925; DOI=10.1073/pnas.75.4.1984;
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=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=1376435; DOI=10.1016/0921-8777(92)90049-9;
RA   Keeney S.N., Wein H., Linn S.M.;
RT   "Biochemical heterogeneity in xeroderma pigmentosum complementation
RT   group E.";
RL   Mutat. Res. 273:49-56(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=3030788; DOI=10.1016/0014-4827(87)90214-X;
RA   Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H.,
RA   Moses R.E.;
RT   "Transformation of DNA repair-deficient human diploid fibroblasts with
RT   a simian virus 40 plasmid.";
RL   Exp. Cell Res. 169:543-553(1987).
//
RX   PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162;
RA   Fujiwara Y., Satoh Y.;
RT   "Assignment of two Japanese xeroderma pigmentosum patients to
RT   complementation group D and their characteristics.";
RL   Jpn. J. Cancer Res. 76:162-166(1985).
//
RX   PubMed=4066782; DOI=10.1242/jcs.76.1.115;
RA   Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.;
RT   "Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet
RT   sensitivity associated with normal and diminished DNA repair ability,
RT   respectively.";
RL   J. Cell Sci. 76:115-133(1985).
//
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=4842087; DOI=10.1016/0027-5107(74)90013-x;
RA   de Weerd-Kastelein E.A., Keijzer W., Bootsma D.;
RT   "A third complementation group in xeroderma pigmentosum.";
RL   Mutat. Res. 22:87-91(1974).
//
RX   PubMed=8798680; DOI=10.1074/jbc.271.40.24317;
RA   Nichols A.F., Ong P., Linn S.M.;
RT   "Mutations specific to the xeroderma pigmentosum group E Ddb-
RT   phenotype.";
RL   J. Biol. Chem. 271:24317-24320(1996).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J.,
RA   Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W.,
RA   Broughton B.C., Kraemer K.H.;
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
//
RX   PubMed=9584159; DOI=10.1128/mcb.18.6.3182;
RA   Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M.,
RA   Stefanini M., Levine A.S., Wood R.D.;
RT   "Relationship of the xeroderma pigmentosum group E DNA repair defect
RT   to the chromatin and DNA binding proteins UV-DDB and replication
RT   protein A.";
RL   Mol. Cell. Biol. 18:3182-3190(1998).
//
RX   PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x;
RA   Itoh T., Linn S.M., Ono T., Yamaizumi M.;
RT   "Reinvestigation of the classification of five cell strains of
RT   xeroderma pigmentosum group E with reclassification of three of
RT   them.";
RL   J. Invest. Dermatol. 114:1022-1029(2000).
//
RX   PubMed=10777490; DOI=10.1074/jbc.M000960200;
RA   Nichols A.F., Itoh T., Graham J.A., Liu W., Yamaizumi M., Linn S.M.;
RT   "Human damage-specific DNA-binding protein p48. Characterization of
RT   XPE mutations and regulation following UV irradiation.";
RL   J. Biol. Chem. 275:21422-21428(2000).
//