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Cellosaurus GM13765 (CVCL_1L79)

[Text version]
Cell line name GM13765
Synonyms AT403AIV3
Accession CVCL_1L79
Resource Identification Initiative To cite this cell line use: GM13765 (RRID:CVCL_1L79)
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.Arg2136Ter (c.6404_6405insTT) (p.Leu2135_Arg2136insTer) (6404insTT); ClinVar=VCV000220763; Zygosity=Heterozygous (Coriell=GM13765).
  • Mutation; HGNC; HGNC:795; ATM; Simple; c.8786+1G>A (IVS62+1G>A) (c.8672del115) (G2891fsX); ClinVar=VCV000127463; Zygosity=Heterozygous; Note=Splice donor mutation. Causes in-frame skipping of exon 62 (Coriell=GM13765).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13765
Cell line databases/resources CLO; CLO_0033492
Biological sample resources BioSample; SAMN00802598
Encyclopedic resources Wikidata; Q54846776
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number19