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Cellosaurus GM20092 (CVCL_1L19)

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Cell line name GM20092
Accession CVCL_1L19
Resource Identification Initiative To cite this cell line use: GM20092 (RRID:CVCL_1L19)
Comments Population: Caucasian; Portuguese.
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.Ala486Serfs*30 (c.1456_1468del); Zygosity=Heterozygous (Coriell=GM20092).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Cys647Trp (c.1941C>G); ClinVar=VCV000550327; Zygosity=Heterozygous (Coriell=GM20092).
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 0-2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20092
Cell line databases/resources CLO; CLO_0028328
Encyclopedic resources Wikidata; Q54850799
Entry history
Entry creation08-Jul-2015
Last entry update10-Apr-2025
Version number15