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Cellosaurus GM13973 (CVCL_1M31)

[Text version]
Cell line name GM13973
Synonyms AT406AIV11
Accession CVCL_1M31
Resource Identification Initiative To cite this cell line use: GM13973 (RRID:CVCL_1M31)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1978Ter (c.5932G>T); ClinVar=VCV000127414; Zygosity=Heterozygous (Coriell=GM13973).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp2959Glyfs*3 (c.8876_8879delACTG) (8876del4); ClinVar=VCV000189140; Zygosity=Heterozygous (Coriell=GM13973).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13973
Cell line databases/resources CLO; CLO_0033831
Biological sample resources BioSample; SAMN00802794
Encyclopedic resources Wikidata; Q54846965
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number16