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Cellosaurus 46BRLigI (CVCL_L950)

[Text version]
Cell line name 46BRLigI
Accession CVCL_L950
Resource Identification Initiative To cite this cell line use: 46BRLigI (RRID:CVCL_L950)
Comments Population: Caucasian.
Transfected with: UniProtKB; P0A9M5; Escherichia coli gpt.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) [Note=pSV3-gpt].
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6598; LIG1; Simple; p.Glu566Lys (c.1696G>A); ClinVar=VCV000016775; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 6598; LIG1; Simple; p.Arg771Trp (c.2311C>T); ClinVar=VCV000016776; Zygosity=Heterozygous (from parent cell line).
Disease DNA ligase I deficiency (NCIt: C122658)
Hypogammaglobulinemia (NCIt: C26931)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_2288 (46BR.1G1)
Sex of cell Female
Age at sampling 18Y
Category Transformed cell line
Publications

PubMed=19628465; DOI=10.1074/jbc.M109.034405
Lopez Castel A., Tomkinson A.E., Pearson C.E.
CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair.
J. Biol. Chem. 284:26631-26645(2009)

Cross-references
Anatomy/cell type resources BTO; BTO:0005013
Encyclopedic resources Wikidata; Q54603236
Entry history
Entry creation06-May-2013
Last entry update05-Oct-2023
Version number16