• Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (PubMed=9238033; PubMed=26184184).
  

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=837385
Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A., de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(1977)

PubMed=273925; DOI=10.1073/pnas.75.4.1984
Andrews A.D., Barrett S.F., Robbins J.H.
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=7163956; DOI=10.1007/BF01543020
Cleaver J.E.
Rapid complementation method for classifying excision repair-defective xeroderma pigmentosum cell strains.
Somatic Cell Genet. 8:801-810(1982)

PubMed=6684957; DOI=10.1007/BF01172877
Kuhnlein U., Tsang S.S., Lokken O., Tong S., Twa D.
Cell lines from xeroderma pigmentosum complementation group A lack a single-stranded-DNA-binding activity.
Biosci. Rep. 3:667-674(1983)

PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7
Cleaver J.E.
DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines.
Mech. Ageing Dev. 27:189-196(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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (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=9238033; DOI=10.1073/pnas.94.16.8658
Taylor E.M., Broughton B.C., Botta E., Stefanini M., Sarasin A., Jaspers N.G.J., Fawcett H., Harcourt S.A., Arlett C.F., Lehmann A.R.
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997)

PubMed=26184184; DOI=10.3390/ijms160715985
Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)