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Cellosaurus GM14108 (CVCL_1K94)

[Text version]
Cell line name GM14108
Accession CVCL_1K94
Resource Identification Initiative To cite this cell line use: GM14108 (RRID:CVCL_1K94)
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=GM14108).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu176Argfs*45 (c.525delT); ClinVar=VCV000004033; Zygosity=Heterozygous (Coriell=GM14108).
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 44Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14108
Encyclopedic resources Wikidata; Q54847047
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14