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Cellosaurus GM20091 (CVCL_1L18)

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Cell line name GM20091
Accession CVCL_1L18
Resource Identification Initiative To cite this cell line use: GM20091 (RRID:CVCL_1L18)
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.Gln58Ter (c.172C>T); ClinVar=VCV000188903; Zygosity=Heterozygous (Coriell=GM20091).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu176Argfs*45 (c.525delT); ClinVar=VCV000004033; Zygosity=Heterozygous (Coriell=GM20091).
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 2M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20091
Cell line databases/resources CLO; CLO_0028325
Encyclopedic resources Wikidata; Q54850798
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14