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; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P0A9M5; Escherichia coli gpt.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-gpt).
CC   Omics: Proteome analysis by 2D-DE/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: 19-12-24; Version: 24
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RX   PubMed=2903889; DOI=10.1080/09553008814552321;
RA   Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.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).
//
RX   PubMed=3002824; DOI=10.1016/0014-4827(86)90356-3;
RA   Mayne L.V., Priestley A., James M.R., Burke J.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 A.R., Willis A.E., Broughton B.C., James M.R.,
RA   Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.;
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 N.V., Jessop J.K., Melton D.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=22222975; DOI=10.1002/elps.201100332;
RA   Giuliano S., Iadarola P., Leva V., Montecucco A., Camerini S.,
RA   Crescenzi M., Salvini R., Bardoni A.;
RT   "An insight into the abundant proteome of 46BR.1G1 fibroblasts
RT   deficient of DNA ligase I.";
RL   Electrophoresis 33:307-315(2012).
//