• Mutation; HGNC; 3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 3439; ERCC8; Simple; p.Ala160Val (c.479C>T); ClinVar=VCV000001717; Zygosity=Heterozygous (from parent cell line).
  

PubMed=3002824; DOI=10.1016/0014-4827(86)90356-3
Mayne L.V., Priestley A., James M.R., Burke J.F.
Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker.
Exp. Cell Res. 162:530-538(1986)

PubMed=2903889; DOI=10.1080/09553008814552321
Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.
Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes.
Int. J. Radiat. Biol. 54:911-928(1988)

PubMed=1339317; DOI=10.1016/0092-8674(92)90390-x
Troelstra C., van Gool A., de Wit J., Vermeulen W., Bootsma D., Hoeijmakers J.H.J.
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes.
Cell 71:939-953(1992)

PubMed=7664335; DOI=10.1016/0092-8674(95)90028-4
Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R.J., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
Cell 82:555-564(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=19329487; DOI=10.1073/pnas.0902113106
Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P., Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A., Stefanini M.
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009)