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Cellosaurus GM14472 (CVCL_1M63)

[Text version]
Cell line name GM14472
Accession CVCL_1M63
Resource Identification Initiative To cite this cell line use: GM14472 (RRID:CVCL_1M63)
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.7630-2A>C (IVS53-2A>C) (IVS51-2A>C) (L2544del53); ClinVar=VCV000127447; Zygosity=Heterozygous; Note=Splice acceptor mutation. Causes in-frame skipping of exon 54 (Leu2544del53) (Coriell=GM14472).
  • 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=GM14472).
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 27Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14472
Cell line databases/resources CLO; CLO_0031279
Encyclopedic resources Wikidata; Q54847228
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number18