• 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
Mayne L.V., Priestley A., James M.R., Burke J.F.
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
Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.
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
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=7683758; DOI=10.1016/0921-8777(93)90057-N
Somia N.V., Jessop J.K., Melton D.W.
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
Giuliano S., Iadarola P., Leva V., Montecucco A., Camerini S., Crescenzi M., Salvini R., Bardoni A.
An insight into the abundant proteome of 46BR.1G1 fibroblasts deficient of DNA ligase I.
Electrophoresis 33:307-315(2012)