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Cellosaurus GM13304 (CVCL_HJ80)

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Cell line name GM13304
Accession CVCL_HJ80
Resource Identification Initiative To cite this cell line use: GM13304 (RRID:CVCL_HJ80)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM13304).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp516Ter (c.1548G>A); ClinVar=VCV000189025; Zygosity=Heterozygous (Coriell=GM13304).
Disease Glycogen storage disease type II (NCIt: C84734)
Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13304
Biological sample resources BioSample; SAMN00802275
Encyclopedic resources Wikidata; Q54846444
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13