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Cellosaurus GM20089 (CVCL_1L16)

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Cell line name GM20089
Accession CVCL_1L16
Resource Identification Initiative To cite this cell line use: GM20089 (RRID:CVCL_1L16)
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; Unexplicit; Ex18del; Zygosity=Homozygous (Coriell=GM20089).
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 Children:
CVCL_UD93 (GM20089 iPSC)
Sex of cell Female
Age at sampling 4M
Category Finite cell line
Publications

PubMed=25488666; DOI=10.1074/jbc.M114.628628; PMCID=PMC4317045
Kunil K. Raval, Ran Tao, Brent E. White, Willem J. De Lange, Chad H. Koonce, Jun-Ying Yu, Priya S. Kishnani, James Alexander Thomson, Deane F. Mosher, John Carter Ralphe, Timothy J. Kamp;
Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.
J. Biol. Chem. 290:3121-3136(2015)

Cross-references
Cell line collections (Providers) Coriell; GM20089
Cell line databases/resources CLO; CLO_0028329
Biological sample resources BioSample; SAMN00805674
Encyclopedic resources Wikidata; Q54850796
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number13