ID   XP6BE(SV)
AC   CVCL_F505
SY   GM08207; GM08207B; GM-08207B; GM 8207; XP6BE(SV40); XP6BE-SV; XP6BESV
DR   CLO; CLO_0010128
DR   Coriell; GM08207
DR   Wikidata; Q54843101
RX   CelloPub=CLPUB00447;
RX   PubMed=1372108;
RX   PubMed=7563073;
RX   PubMed=7585650;
RX   PubMed=7671243;
RX   PubMed=8033104;
RX   PubMed=8055625;
RX   PubMed=8824772;
RX   PubMed=9012405;
RX   PubMed=9025096;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=7585650; Coriell=GM08207).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly36_Arg61del; Zygosity=Heterozygous (PubMed=7585650; Coriell=GM08207).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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)
HI   CVCL_F599 ! XP6BE
SX   Female
AG   19Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 10-04-25; Version: 22
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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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
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=7563073; DOI=10.1006/jmbi.1995.0519;
RA   Marionnet C., Benoit A., Benhamou S., Sarasin A., Stary A.;
RT   "Characteristics of UV-induced mutation spectra in human XP-D/ERCC2
RT   gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.";
RL   J. Mol. Biol. 252:550-562(1995).
//
RX   PubMed=7585650;
RA   Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H.,
RA   Weber C.A.;
RT   "Defects in the DNA repair and transcription gene ERCC2 in the
RT   cancer-prone disorder xeroderma pigmentosum group D.";
RL   Cancer Res. 55:5656-5663(1995).
//
RX   PubMed=7671243;
RA   Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L.,
RA   Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J.,
RA   Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.;
RT   "Different removal of ultraviolet photoproducts in genetically related
RT   xeroderma pigmentosum and trichothiodystrophy diseases.";
RL   Cancer Res. 55:4325-4332(1995).
//
RX   PubMed=8033104;
RA   Gozukara E.M., Parris C.N., Weber C.A., Salazar E.P., Seidman M.M.,
RA   Watkins J.F., Prakash L., Kraemer K.H.;
RT   "The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet
RT   hypersensitivity and ultraviolet hypermutability of a shuttle vector
RT   replicated in xeroderma pigmentosum group D cells.";
RL   Cancer Res. 54:3837-3844(1994).
//
RX   PubMed=8055625; DOI=10.1093/carcin/15.8.1493;
RA   Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M.,
RA   Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R.,
RA   Weber C.A., Sarasin A.;
RT   "Correction by the ERCC2 gene of UV sensitivity and repair deficiency
RT   phenotype in a subset of trichothiodystrophy cells.";
RL   Carcinogenesis 15:1493-1498(1994).
//
RX   PubMed=8824772; DOI=10.1016/0300-9084(95)90011-x;
RA   Eveno E., Quilliet X., Chevallier-Lagente O., Daya-Grosjean L.,
RA   Stary A., Zeng L., Benoit A., Savini E., Ciarrocchi G., Kannouche P.,
RA   Salles B., Sarasin A., Mezzina M.;
RT   "Stable SV40-transformation and characterisation of some DNA repair
RT   properties of fibroblasts from a trichothiodystrophy patient.";
RL   Biochimie 77:906-912(1995).
//
RX   PubMed=9012405; PMCID=PMC1712398;
RA   Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O.,
RA   Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.;
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
//
RX   PubMed=9025096; DOI=10.1093/mutage/12.1.41;
RA   Yagi T., Wood R.D., Takebe H.;
RT   "A low content of ERCC1 and a 120 kDa protein is a frequent feature of
RT   group F xeroderma pigmentosum fibroblast cells.";
RL   Mutagenesis 12:41-44(1997).
//