• Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Glu566Lys (c.1696G>A); ClinVar=VCV000016775; Zygosity=Heterozygous (Coriell=GM16096).
  
• Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Arg771Trp (c.2311C>T); ClinVar=VCV000016776; Zygosity=Heterozygous (Coriell=GM16096).
  

PubMed=7067035; DOI=10.1093/carcin/3.1.33
Ian A. Teo, Colin Francis Arlett;
The response of a variety of human fibroblast cell strains to the lethal effects of alkylating agents.
Carcinogenesis 3:33-37(1982)

PubMed=6408472; DOI=10.1016/0027-5107(83)90177-X
Ian A. Teo, Colin Francis Arlett, Susan A. Harcourt, Anne Priestley, Bernard C. Broughton;
Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immuno-deficiencies.
Mutat. Res. 107:371-386(1983)

PubMed=6600729; DOI=10.1080/09553008314550171
Colin Francis Arlett, Anne Priestley;
Defective recovery from potentially lethal damage in some human fibroblast cell strains.
Int. J. Radiat. Biol. Relat. Stud. Phys. Chem. Med. 43:157-167(1983)

PubMed=3856882; DOI=10.1073/pnas.82.7.2044; PMCID=PMC397488
Leigh M. Henderson, Colin Francis Arlett, Susan A. Harcourt, Alan R. Lehmann, Bernard C. Broughton;
Cells from an immunodeficient patient (46BR) with a defect in DNA ligation are hypomutable but hypersensitive to the induction of sister chromatid exchanges.
Proc. Natl. Acad. Sci. U.S.A. 82:2044-2048(1985)

PubMed=2973075; DOI=10.2307/3577479
Bernard Fertil, Patrick J. Deschavanne, Danielle Debieu, Edmond-Philippe Malaise;
Correlation between PLD repair capacity and the survival curve of human fibroblasts in exponential growth phase: analysis in terms of several parameters.
Radiat. Res. 116:74-88(1988)

PubMed=3180052
Alan R. Lehmann, Anne Elizabeth Willis, Bernard C. Broughton, Michael R. James, Herdis Steingrimsdottir, Susan A. Harcourt, Colin Francis Arlett, Tomas Robert Lindahl;
Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
Cancer Res. 48:6343-6347(1988)

PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013
Paul F. Wilson, Peter B. Nham, Salustra S. Urbin, John M. Hinz, Irene M. Jones, Lawrence H. Thompson;
Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation.
Mutat. Res. 683:91-97(2010)