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Cellosaurus GM20310 (CVCL_1L23)

[Text version]
Cell line name GM20310
Accession CVCL_1L23
Resource Identification Initiative To cite this cell line use: GM20310 (RRID:CVCL_1L23)
Comments Population: Bangladeshi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4065; GAA; Unexplicit; Ex16-20del (IVS15>3' of exon 20 9-kb del); Zygosity=Homozygous (Coriell=GM20310).
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 5M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20310
Cell line databases/resources CLO; CLO_0027887
Encyclopedic resources Wikidata; Q54850913
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number13