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

PubMed=3002824; DOI=10.1016/0014-4827(86)90356-3
Lynne V. Mayne, Anne Priestley, Michael R. James, Julian F. Burke;
Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker.
Exp. Cell Res. 162:530-538(1986)

PubMed=2903889; DOI=10.1080/09553008814552321
Colin Francis Arlett, Michael H.L. Green, Anne Priestley, Susan A. Harcourt, Lynne V. Mayne;
Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes.
Int. J. Radiat. Biol. 54:911-928(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=7683758; DOI=10.1016/0921-8777(93)90057-N
Nikunj V. Somia, J. Kirsty Jessop, David W. Melton;
Phenotypic correction of a human cell line (46BR) with aberrant DNA ligase I activity.
Mutat. Res. 294:51-58(1993)

PubMed=22222975; DOI=10.1002/elps.201100332
Serena Giuliano, Paolo Iadarola, Valentina Leva, Alessandra Montecucco, Serena Camerini, Marco Crescenzi, Roberta Salvini, Anna Bardoni;
An insight into the abundant proteome of 46BR.1G1 fibroblasts deficient of DNA ligase I.
Electrophoresis 33:307-315(2012)