• Mutation; HGNC; 3434; ERCC2; Simple; p.Asp681Asn (c.2041G>A); ClinVar=VCV000016787; Zygosity=Heterozygous (from autologous cell line XP17BE).
  
• Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (from autologous cell line XP17BE).
  

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)

PubMed=2805228; DOI=10.1093/carcin/10.11.2067
Arita I., Tachibana A., Takebe H., Tatsumi K.
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

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=7519740; DOI=10.1016/0165-7992(94)90014-0
Jones C.J., Lloyd R.S., Wood R.D.
Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene.
Mutat. Res. 324:159-164(1994)

PubMed=9025096; DOI=10.1093/mutage/12.1.41
Yagi T., Wood R.D., Takebe H.
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)