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Cellosaurus GM14393 (CVCL_1K97)

[Text version]
Cell line name GM14393
Accession CVCL_1K97
Resource Identification Initiative To cite this cell line use: GM14393 (RRID:CVCL_1K97)
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=GM14393).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Gly309Arg (c.925G>A); ClinVar=VCV000188797; Zygosity=Heterozygous (Coriell=GM14393).
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 Male
Age at sampling 46Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14393
Encyclopedic resources Wikidata; Q54847193
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14