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Cellosaurus GM13522 (CVCL_1K79)

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Cell line name GM13522
Accession CVCL_1K79
Resource Identification Initiative To cite this cell line use: GM13522 (RRID:CVCL_1K79)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg660His (c.1979G>A); ClinVar=VCV000189172; Zygosity=Heterozygous (Coriell=GM13522).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Heterozygous (Coriell=GM13522).
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 4M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM13522
Biological sample resources BioSample; SAMN00802446
Encyclopedic resources Wikidata; Q54846608
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14