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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; 3434; ERCC2; Simple; p.Gly36_Arg61del; Zygosity=Heterozygous (PubMed=7585650; Coriell=GM08207).
  • Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; 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
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=8033104
Gozukara E.M., Parris C.N., Weber C.A., Salazar E.P., Seidman M.M., Watkins J.F., Prakash L., Kraemer K.H.
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
Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M., Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R., Weber C.A., Sarasin A.
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
Marionnet C., Benoit A., Benhamou S., Sarasin A., Stary A.
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
Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H., Weber C.A.
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
Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L., Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J., Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.
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
Eveno E., Quilliet X., Chevallier-Lagente O., Daya-Grosjean L., Stary A., Zeng L., Benoit A., Savini E., Ciarrocchi G., Kannouche P., Salles B., Sarasin A., Mezzina M.
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
Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O., Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.
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
Yagi T., Wood R.D., Takebe H.
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 update30-Jan-2024
Version number20