Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Here, by reprogramming peripheral blood mononuclear cells, we report the generation of induced pluripotent stem cells (iPSCs) from three patients carrying the ΔYTT deletion, T78K and W101C missense mutations in caveolin-3. iPSCs displayed normal karyotypes and all the features of pluripotent stem cells in terms of morphology, specific marker expression and ability to differentiate in vitro into the three germ layers. These lines thus represent a human cellular model to study the molecular basis of caveolinopathies. Resource table.
Pubmed ID: 29304398 RIS Download
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This polyclonal secondary targets IgG (H+L)
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View all literature mentionsThis monoclonal targets Mouse IgG3 Fluorescein Isotype Control (Clone 133316)
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View all literature mentionsThis monoclonal targets Human/Mouse SSEA-4 Fluorescein MAb (Clone MC-813-70)
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