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ZJ-hiPSC 3Homo sapiens (Human)Induced pluripotent stem cell

Also known as: ZJ3

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_A4HC
SpeciesHomo sapiens (Human)
Tissue SourceSkin, dermis[UBERON:UBERON_0002067]

Disease Information

DiseaseRare familial disorder with hypertrophic cardiomyopathy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimplePRKAG2p.Arg302Gln (c.905G>A)Heterozygous-PubMed=29452156

Publications

Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells.

Ge J.-B., Sun N.

J. Mol. Cell. Cardiol. 117:49-61(2018).

DOIPubMed