ID   46BR.1N
AC   CVCL_2289
AS   CVCL_F225
SY   46BR-1N; 46BR.NEO; 46BRneo; GM16097
DR   CLO; CLO_0001381
DR   CLO; CLO_0018863
DR   CLDB; cl101
DR   Coriell; GM16097
DR   ECACC; 92100623
DR   Wikidata; Q54603234
RX   PubMed=2903889;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Glu566Lys (c.1696G>A); ClinVar=VCV000016775; Zygosity=Heterozygous (Coriell=GM16097).
CC   Sequence variation: Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Arg771Trp (c.2311C>T); ClinVar=VCV000016776; Zygosity=Heterozygous (Coriell=GM16097).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-neo).
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: 20
//
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).
//