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Cellosaurus XP6BE(SV) (CVCL_F505)

[Text version]
Cell line name XP6BE(SV)
Synonyms GM08207; GM08207B; GM-08207B; GM 8207; XP6BE(SV40); XP6BE-SV; XP6BESV
Accession CVCL_F505
Resource Identification Initiative To cite this cell line use: XP6BE(SV) (RRID:CVCL_F505)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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=Heterozygous (PubMed=7585650; Coriell=GM08207).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly36_Arg61del; Zygosity=Heterozygous (PubMed=7585650; Coriell=GM08207).
Disease Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F599 (XP6BE)
Children:
CVCL_F508 (GM15877)
Sex of cell Female
Age at sampling 19Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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
Robert T. Johnson, Shoshana Squires;
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
Mutat. Res. 273:97-118(1992)

PubMed=8033104
Engin Mevlut Gozukara, Christopher N. Parris, Christine A. Weber, Edmund P. Salazar, Michael M. Seidman, John Frederick Watkins, Louise Prakash, Kenneth H. Kraemer;
The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells.
Cancer Res. 54:3837-3844(1994)

PubMed=8055625; DOI=10.1093/carcin/15.8.1493
Mauro Mezzina, Eric Eveno, Odile Chevallier-Lagente, Annie Benoit, Madeleine Carreau, Wim Vermeulen, Jan Hendrik Jozef Hoeijmakers, Miria Stefanini, Alan R. Lehmann, Christine A. Weber, Alain Sarasin;
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
Carcinogenesis 15:1493-1498(1994)

PubMed=7563073; DOI=10.1006/jmbi.1995.0519
Claire Marionnet, Annie Benoit, Simone Benhamou, Alain Sarasin, Anne Stary;
Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
J. Mol. Biol. 252:550-562(1995)

PubMed=7585650
Kyoko Takayama, Edmund P. Salazar, Alan R. Lehmann, Miria Stefanini, Lawrence H. Thompson, Christine A. Weber;
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
Cancer Res. 55:5656-5663(1995)

PubMed=7671243
Eric Eveno, Francois Bourre, Xavier Quilliet, Odile Chevallier-Lagente, Len Roza, Andre P.M. Eker, Wim J. Kleijer, Osamu Nikaido, Miria Stefanini, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma ...Show all 14 authors... , James Edward Cleaver, Alain Sarasin, Mauro Mezzina; Show fewer authors
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Cancer Res. 55:4325-4332(1995)

PubMed=8824772; DOI=10.1016/0300-9084(95)90011-x
Eric Eveno, Xavier Quilliet, Odile Chevallier-Lagente, Leela Daya-Grosjean, Anne Stary, Lin Zeng, Annie Benoit, Elena Savini, Giovanni Ciarrocchi, Patricia Kannouche, Bernard Salles ...Show all 13 authors... , Alain Sarasin, Mauro Mezzina; Show fewer authors
Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient.
Biochimie 77:906-912(1995)

PubMed=9012405; PMCID=PMC1712398
Geert Weeda, Eric Eveno, Ingrid Donker, Wim Vermeulen, Odile Chevallier-Lagente, Alain Taieb, Anne Stary, Jan Hendrik Jozef Hoeijmakers, Mauro Mezzina, Alain Sarasin;
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)

PubMed=9025096; DOI=10.1093/mutage/12.1.41
Takashi Yagi, Richard Dean Wood, Hiraku Takebe;
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)

Cross-references
Cell line collections (Providers) Coriell; GM08207
Cell line databases/resources CLO; CLO_0010128
Encyclopedic resources Wikidata; Q54843101
Entry history
Entry creation11-Feb-2013
Last entry update10-Apr-2025
Version number22