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Cellosaurus 46BR.1N (CVCL_2289)

[Text version]
Cell line name 46BR.1N
Synonyms 46BR-1N; 46BR.NEO; 46BRneo; GM16097
Accession CVCL_2289
Secondary accession CVCL_F225
Resource Identification Initiative To cite this cell line use: 46BR.1N (RRID:CVCL_2289)
Comments Population: Caucasian.
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-neo).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Glu566Lys (c.1696G>A); ClinVar=VCV000016775; Zygosity=Heterozygous (Coriell=GM16097).
  • Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Arg771Trp (c.2311C>T); ClinVar=VCV000016776; Zygosity=Heterozygous (Coriell=GM16097).
Disease DNA ligase I deficiency (NCIt: C122658)
Hypogammaglobulinemia (NCIt: C26931)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_L943 (46BR)
Sex of cell Female
Age at sampling 18Y
Category Transformed cell line
Publications

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)

Cross-references
Cell line collections (Providers) Coriell; GM16097
ECACC; 92100623
Cell line databases/resources CLO; CLO_0001381
CLO; CLO_0018863
CLDB; cl101
Encyclopedic resources Wikidata; Q54603234
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number20