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Cellosaurus GM20088 (CVCL_1L15)

[Text version]
Cell line name GM20088
Accession CVCL_1L15
Resource Identification Initiative To cite this cell line use: GM20088 (RRID:CVCL_1L15)
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; c.2646+2T>A (IVS18+2T>A); ClinVar=VCV000188924; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM20088).
  • Mutation; HGNC; HGNC:4065; GAA; Unexplicit; IVS7-IVS15del; Zygosity=Heterozygous (Coriell=GM20088).
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; GM20088
Cell line databases/resources CLO; CLO_0028309
Biological sample resources BioSample; SAMN00805672
Encyclopedic resources Wikidata; Q54850795
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14