ID   XP3NE
AC   CVCL_L754
SY   Xeroderma Pigmentosum 3 NEwscastle; GM00434; GM-434; GM 0434; GM0434; GM434
DR   CLO; CLO_0026112
DR   Coriell; GM00434
DR   Wikidata; Q54836218
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=273925;
RX   PubMed=837385;
RX   PubMed=1034206;
RX   PubMed=1372108;
RX   PubMed=2987007;
RX   PubMed=3003928;
RX   PubMed=3030788;
RX   PubMed=6096694;
RX   PubMed=7825573;
RX   PubMed=8823375;
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (from familial inference of XP2NE).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 17
//
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=10.5962/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=1034206; DOI=10.1016/0027-5107(76)90044-0;
RA   de Weerd-Kastelein E.A., Keijzer W., Sabour M., Parrington J.M.,
RA   Bootsma D.;
RT   "A xeroderma pigmentosum patient having a high residual activity of
RT   unscheduled DNA synthesis after UV is assigned to complementation
RT   group A.";
RL   Mutat. Res. 37:307-312(1976).
//
RX   PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b;
RA   Johnson R.T., Squires S.;
RT   "The XPD complementation group. Insights into xeroderma pigmentosum,
RT   Cockayne's syndrome and trichothiodystrophy.";
RL   Mutat. Res. 273:97-118(1992).
//
RX   PubMed=2987007; DOI=10.1016/0014-4827(85)90437-9;
RA   Murnane J.P., Fuller L.F., Painter R.B.;
RT   "Establishment and characterization of a permanent pSV ori-transformed
RT   ataxia-telangiectasia cell line.";
RL   Exp. Cell Res. 158:119-126(1985).
//
RX   PubMed=3003928; DOI=10.1007/BF01560723;
RA   Canaani D., Naiman T., Teitz T., Berg P.;
RT   "Immortalization of xeroderma pigmentosum cells by simian virus 40 DNA
RT   having a defective origin of DNA replication.";
RL   Somat. Cell Mol. Genet. 12:13-20(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=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=7825573;
RA   Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W.,
RA   Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A.,
RA   Cole J., Arlett C.F., Lehmann A.R.;
RT   "Molecular and cellular analysis of the DNA repair defect in a patient
RT   in xeroderma pigmentosum complementation group D who has the clinical
RT   features of xeroderma pigmentosum and Cockayne syndrome.";
RL   Am. J. Hum. Genet. 56:167-174(1995).
//
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).
//