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Cellosaurus GM20005 (CVCL_F637)

[Text version]
Cell line name GM20005
Accession CVCL_F637
Resource Identification Initiative To cite this cell line use: GM20005 (RRID:CVCL_F637)
Comments Population: African American.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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.Trp481Glyfs*39 (c.1441delT); ClinVar=VCV000972761; Zygosity=Heterozygous (Coriell=GM20005).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp746Ter (c.2237G>A); ClinVar=VCV000280063; Zygosity=Heterozygous (Coriell=GM20005).
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)
Hierarchy Parent: CVCL_F601 (GM04912)
Sex of cell Male
Age at sampling 4M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20005 - Discontinued
Cell line databases/resources CLO; CLO_0028365
Biological sample resources BioSample; SAMN00805638
Encyclopedic resources Wikidata; Q54850777
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number21