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Cellosaurus GM14407 (CVCL_1K98)

[Text version]
Cell line name GM14407
Accession CVCL_1K98
Resource Identification Initiative To cite this cell line use: GM14407 (RRID:CVCL_1K98)
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; p.Leu291Phe (c.871C>T); ClinVar=VCV000956209; Zygosity=Heterozygous (Coriell=GM14407).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp481Arg (c.1441T>C); ClinVar=VCV000189007; Zygosity=Heterozygous (Coriell=GM14407).
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 1Y8M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14407
Encyclopedic resources Wikidata; Q54847197
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15