Cellosaurus cell line CS1BE (CVCL_L473)

• Mutation; HGNC; 3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
  
• Mutation; HGNC; 3438; ERCC6; Simple; p.Tyr1179Leufs*22 (c.3536delA) (3615delA); ClinVar=VCV000190167; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
  

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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=7301938; DOI=10.1111/j.1751-1097.1981.tb09049.x
Day R.S. III, Ziolkowski C.H.J., DiMattina M.
Decreased host cell reactivation of UV-irradiated adenovirus 5 by fibroblasts from Cockayne's syndrome patients.
Photochem. Photobiol. 34:603-607(1981)

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

PubMed=8317483
Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Am. J. Hum. Genet. 53:185-192(1993)

PubMed=9443879; DOI=10.1086/301686
Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H., van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Am. J. Hum. Genet. 62:77-85(1998)

DOI=10.21954/ou.ro.0000e27e
Mallery D.L.
The identification and analysis of mutation in the Cockayne syndrome B gene.
Thesis PhD (1999), The Open University, United Kingdom

PubMed=12665480; DOI=10.1096/fj.02-0851com
Tuo J.-S., Jaruga P., Rodriguez H., Bohr V.A., Dizdaroglu M.
Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress.
FASEB J. 17:668-674(2003)

PubMed=27543334; DOI=10.1073/pnas.1610020113
Reid-Bayliss K.S., Arron S.T., Loeb L.A., Bezrookove V., Cleaver J.E.
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
Proc. Natl. Acad. Sci. U.S.A. 113:10151-10156(2016)