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Cellosaurus GM13352 (CVCL_1K74)

[Text version]
Cell line name GM13352
Accession CVCL_1K74
Resource Identification Initiative To cite this cell line use: GM13352 (RRID:CVCL_1K74)
Comments Population: Indian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu521Lys (c.1561G>A); ClinVar=VCV000004022; Zygosity=Homozygous (Coriell=GM13352).
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 7M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM13352
Cell line databases/resources CLO; CLO_0012903
Biological sample resources BioSample; SAMN00802326
Encyclopedic resources Wikidata; Q54846478
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14