• Mutation; HGNC; 3438; ERCC6; Simple; p.Ser222Tyrfs*25 (c.665_723del59) (Ex10del); Zygosity=Heterozygous (PubMed=9443879).
  
• Mutation; HGNC; 3438; ERCC6; Simple; p.Tyr1179Ilefs*22 (c.3535delT); Zygosity=Heterozygous (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=157803
Lehmann A.R., Kirk-Bell S., Mayne L.V.
Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome.
Cancer Res. 39:4237-4241(1979)

PubMed=431551; DOI=10.1016/0027-5107(79)90194-5
Wade M.H., Chu E.H.-Y.
Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome.
Mutat. Res. 59:49-60(1979)

PubMed=7471106
Arlett C.F., Harcourt S.A.
Survey of radiosensitivity in a variety of human cell strains.
Cancer Res. 40:926-932(1980)

PubMed=7301938; DOI=10.1111/j.1751-1097.1981.tb09049.x
Day R.S. 3rd, 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)

PubMed=6622549; DOI=10.1111/j.1751-1097.1983.tb08373.x
Coohill T.P., Moore S.P., Grider R.A.
Action spectra (254-302 nm) for four human photosensitive cell lines.
Photochem. Photobiol. 38:105-107(1983)

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

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=9443879; DOI=10.1086/301686; PMCID=PMC1376810
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)

PubMed=9777763; DOI=10.1016/S0190-9622(98)70005-2
Miyauchi-Hashimoto H., Akaeda T., Maihara T., Ikenaga M., Horio T.
Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.
J. Am. Acad. Dermatol. 39:565-570(1998)

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)