• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (from parent cell line).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (from parent cell line).
  

PubMed=8055625; DOI=10.1093/carcin/15.8.1493
Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M., Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R., Weber C.A., Sarasin A.
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
Carcinogenesis 15:1493-1498(1994)

PubMed=7563073; DOI=10.1006/jmbi.1995.0519
Marionnet C., Benoit A., Benhamou S., Sarasin A., Stary A.
Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
J. Mol. Biol. 252:550-562(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=8824772; DOI=10.1016/0300-9084(95)90011-x
Eveno E., Quilliet X., Chevallier-Lagente O., Daya-Grosjean L., Stary A., Zeng L., Benoit A., Savini E., Ciarrocchi G., Kannouche P., Salles B., Sarasin A., Mezzina M.
Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient.
Biochimie 77:906-912(1995)

PubMed=18676829; DOI=10.1158/0008-5472.CAN-07-6695
Chigancas V., de Lima-Bessa K.M., Stary A., Menck C.F.M., Sarasin A.
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.
Cancer Res. 68:6074-6083(2008)