• 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
Teo I.A., Arlett C.F.
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
Teo I.A., Arlett C.F., Harcourt S.A., Priestley A., Broughton B.C.
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
Arlett C.F., Priestley A.
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
Henderson L.M., Arlett C.F., Harcourt S.A., Lehmann A.R., Broughton B.C.
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
Fertil B., Deschavanne P.J., Debieu D., Malaise E.-P.
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
Lehmann A.R., Willis A.E., Broughton B.C., James M.R., Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.
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
Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M., Thompson L.H.
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)