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Cellosaurus GM13792 (CVCL_1L83)

[Text version]
Cell line name GM13792
Accession CVCL_1L83
Resource Identification Initiative To cite this cell line use: GM13792 (RRID:CVCL_1L83)
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.3993+1G>A (IVS28+1G>A) (IVS26+1G>A); ClinVar=VCV000141447; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM13792).
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 26Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13792
Cell line databases/resources CLO; CLO_0033470
Biological sample resources BioSample; SAMN00802622
Encyclopedic resources Wikidata; Q54846788
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number17