ID 46BR.1G1 AC CVCL_2288 SY 46Br.1G1; 46BR 1G1; 46BR-1G1 DR BTO; BTO_0005012 DR CLO; CLO_0001380 DR CLDB; cl100 DR ECACC; 92091814 DR Wikidata; Q54603230 RX PubMed=2903889; RX PubMed=3002824; RX PubMed=3180052; RX PubMed=7683758; RX PubMed=22222975; CC Population: Caucasian. CC Sequence variation: Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Glu566Lys (c.1696G>A); ClinVar=VCV000016775; Zygosity=Heterozygous (from parent cell line). CC Sequence variation: Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Arg771Trp (c.2311C>T); ClinVar=VCV000016776; Zygosity=Heterozygous (from parent cell line). CC Genetic integration: Method=Transfection; Gene=UniProtKB; P0A9M5; Escherichia coli gpt. CC Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; Simian virus 40 (SV40) large T antigen. CC Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-gpt). CC Omics: Proteomics; 2DE-MS. CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C122658; DNA ligase I deficiency DI NCIt; C26931; Hypogammaglobulinemia OX NCBI_TaxID=9606; ! Homo sapiens (Human) HI CVCL_L943 ! 46BR SX Female AG 18Y CA Transformed cell line DT Created: 04-04-12; Last updated: 14-08-25; Version: 26 CH CVCL_L950 ! 46BRLigI // RX PubMed=22222975; DOI=10.1002/elps.201100332; RA Giuliano, Serena RA Iadarola, Paolo RA Leva, Valentina RA Montecucco, Alessandra RA Camerini, Serena RA Crescenzi, Marco RA Salvini, Roberta RA Bardoni, Anna RT "An insight into the abundant proteome of 46BR.1G1 fibroblasts RT deficient of DNA ligase I."; RL Electrophoresis 33:307-315(2012). // RX PubMed=3002824; DOI=10.1016/0014-4827(86)90356-3; RA Mayne, Lynne V. RA Priestley, Anne RA James, Michael R. RA Burke, Julian F. RT "Efficient immortalization and morphological transformation of human RT fibroblasts by transfection with SV40 DNA linked to a dominant RT marker."; RL Exp. Cell Res. 162:530-538(1986). // RX PubMed=3180052; RA Lehmann, Alan Robert RA Willis, Anne Elizabeth RA Broughton, Bernard C. RA James, Michael R. RA Steingrimsdottir, Herdis RA Harcourt, Susan A. RA Arlett, Colin Francis RA Lindahl, Tomas Robert RT "Relation between the human fibroblast strain 46BR and cell lines RT representative of Bloom's syndrome."; RL Cancer Res. 48:6343-6347(1988). // RX PubMed=7683758; DOI=10.1016/0921-8777(93)90057-N; RA Somia, Nikunj V. RA Jessop, J. Kirsty RA Melton, David W. RT "Phenotypic correction of a human cell line (46BR) with aberrant DNA RT ligase I activity."; RL Mutat. Res. 294:51-58(1993). // RX PubMed=2903889; DOI=10.1080/09553008814552321; RA Arlett, Colin Francis RA Green, Michael H.L. RA Priestley, Anne RA Harcourt, Susan A. RA Mayne, Lynne V. RT "Comparative human cellular radiosensitivity: I. The effect of SV40 RT transformation and immortalisation on the gamma-irradiation survival RT of skin derived fibroblasts from normal individuals and from RT ataxia-telangiectasia patients and heterozygotes."; RL Int. J. Radiat. Biol. 54:911-928(1988). //