Cellosaurus logo
expasy logo

Cellosaurus GM13291 (CVCL_1K70)

[Text version]
Cell line name GM13291
Accession CVCL_1K70
Resource Identification Initiative To cite this cell line use: GM13291 (RRID:CVCL_1K70)
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.Glu176Argfs*45 (c.525delT); ClinVar=VCV000004033; Zygosity=Heterozygous (Coriell=GM13291).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; c.1195-8G>A; ClinVar=VCV000570655; Zygosity=Heterozygous (Coriell=GM13291).
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 25Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13291
Biological sample resources BioSample; SAMN00802263
Encyclopedic resources Wikidata; Q54846425
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15