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Cellosaurus GM20123 iPSC (CVCL_UD94)

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Cell line name GM20123 iPSC
Synonyms Control 1
Accession CVCL_UD94
Resource Identification Initiative To cite this cell line use: GM20123 iPSC (RRID:CVCL_UD94)
Comments Population: Caucasian; Dutch.
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=Heterozygous (PubMed=25488666).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_1L21 (GM20123)
Sex of cell Female
Age at sampling Adult
Category Induced pluripotent stem cell
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
Encyclopedic resources Wikidata; Q93864425
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number8