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Cellosaurus XP3NE (CVCL_L754)

[Text version]
Cell line name XP3NE
Synonyms Xeroderma Pigmentosum 3 NEwscastle; GM00434; GM-434; GM 0434; GM0434; GM434
Accession CVCL_L754
Resource Identification Initiative To cite this cell line use: XP3NE (RRID:CVCL_L754)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (from familial inference of XP2NE).
Disease Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YP32 (GM10595)CVCL_M229 (MH3-XPD)
Sex of cell Male
Age at sampling 28Y
Category Finite cell line
Publications

PubMed=1034206; DOI=10.1016/0027-5107(76)90044-0
de Weerd-Kastelein E.A., Keijzer W., Sabour M., Parrington J.M., Bootsma D.
A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A.
Mutat. Res. 37:307-312(1976)

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=837385
Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A., de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(1977)

PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467
Andrews A.D., Barrett S.F., Robbins J.H.
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=6096694; DOI=10.1128/mcb.4.11.2341-2346.1984; PMCID=PMC369063
Abrahams P.J., Huitema B.A., van der Eb A.J.
Enhanced reactivation and enhanced mutagenesis of herpes simplex virus in normal human and xeroderma pigmentosum cells.
Mol. Cell. Biol. 4:2341-2346(1984)

PubMed=2987007; DOI=10.1016/0014-4827(85)90437-9
Murnane J.P., Fuller L.F., Painter R.B.
Establishment and characterization of a permanent pSV ori-transformed ataxia-telangiectasia cell line.
Exp. Cell Res. 158:119-126(1985)

PubMed=3003928; DOI=10.1007/BF01560723
Canaani D., Naiman T., Teitz T., Berg P.
Immortalization of xeroderma pigmentosum cells by simian virus 40 DNA having a defective origin of DNA replication.
Somat. Cell Mol. Genet. 12:13-20(1986)

PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X
Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H., Moses R.E.
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid.
Exp. Cell Res. 169:543-553(1987)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b
Johnson R.T., Squires S.
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
Mutat. Res. 273:97-118(1992)

PubMed=7825573; PMCID=PMC1801309
Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W., Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A., Cole J., Arlett C.F., Lehmann A.R.
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Am. J. Hum. Genet. 56:167-174(1995)

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J., Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B.C., Kraemer K.H.
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
J. Invest. Dermatol. 107:647-653(1996)

Cross-references
Cell line collections (Providers) Coriell; GM00434
Cell line databases/resources CLO; CLO_0026112
Encyclopedic resources Wikidata; Q54836218
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number18