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Cellosaurus GM20090 (CVCL_1L17)

[Text version]
Cell line name GM20090
Accession CVCL_1L17
Resource Identification Initiative To cite this cell line use: GM20090 (RRID:CVCL_1L17)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Asp645Asn (c.1933G>A); ClinVar=VCV000188728; Zygosity=Heterozygous (Coriell=GM20090).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu748Glyfs*48 (c.2242dupG) (2243insG); ClinVar=VCV000370651; Zygosity=Heterozygous (Coriell=GM20090).
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 6M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20090
Cell line databases/resources CLO; CLO_0028332
Encyclopedic resources Wikidata; Q54850797
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14