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Cellosaurus GM13907 (CVCL_1M14)

[Text version]
Cell line name GM13907
Accession CVCL_1M14
Resource Identification Initiative To cite this cell line use: GM13907 (RRID:CVCL_1M14)
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.Lys750Lys (c.2250G>A); ClinVar=VCV000003044; Zygosity=Heterozygous; Note=Causes skipping of exon 14 (p.Ile709_Lys750del, c.2125_2250del) (Coriell=GM13907).
  • Mutation; HGNC; HGNC:795; ATM; Unexplicit; IVS49-2A>G; Zygosity=Heterozygous; Note=Causes in-frame skipping of exon 50 (Met2315del38) (Coriell=GM13907).
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 18Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13907
Cell line databases/resources CLO; CLO_0033974
Biological sample resources BioSample; SAMN00802720
Encyclopedic resources Wikidata; Q54846910
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number16