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Cellosaurus GM20089 iPSC (CVCL_UD93)

[Text version]
Cell line name GM20089 iPSC
Synonyms Pompe 1
Accession CVCL_UD93
Resource Identification Initiative To cite this cell line use: GM20089 iPSC (RRID:CVCL_UD93)
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 (PubMed=25488666).
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_1L16 (GM20089)
Sex of cell Female
Age at sampling 4M
Category Induced pluripotent stem cell
Publications

PubMed=25488666; DOI=10.1074/jbc.M114.628628; PMCID=PMC4317045
Raval K.K., Tao R., White B.E., De Lange W.J., Koonce C.H., Yu J.-Y., Kishnani P.S., Thomson J.A., Mosher D.F., Ralphe J.C., Kamp T.J.
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
Encyclopedic resources Wikidata; Q93864397
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number8