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Cellosaurus GM13692 (CVCL_1L77)

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Cell line name GM13692
Synonyms AT380AIV1
Accession CVCL_1L77
Resource Identification Initiative To cite this cell line use: GM13692 (RRID:CVCL_1L77)
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; c.901+1G>A (IVS9+1G>A); ClinVar=VCV000186761; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM13692).
  • Mutation; HGNC; HGNC:795; ATM; Simple; c.8988-2A>G (IVS64-2A>G); ClinVar=VCV000185326; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM13692).
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 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13692
Cell line databases/resources CLO; CLO_0032751
Biological sample resources BioSample; SAMN00802540
Encyclopedic resources Wikidata; Q54846720
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number17