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Cellosaurus GM14423 (CVCL_1L00)

[Text version]
Cell line name GM14423
Accession CVCL_1L00
Resource Identification Initiative To cite this cell line use: GM14423 (RRID:CVCL_1L00)
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=GM14423).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.His308Pro (c.923A>C); ClinVar=VCV001493530; Zygosity=Heterozygous (Coriell=GM14423).
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 31Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14423
Encyclopedic resources Wikidata; Q54847204
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15