Article
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene.
Stem cell research - 1 Mar 2018
Meraviglia Viviana, Benzoni Patrizia, Landi Sara, Murano Carmen, Langione Marianna, Motta Benedetta M, Baratto Serena, Silipigni Rosamaria, Di Segni Marina, Pramstaller Peter P, DiFrancesco Dario, Gazzerro Elisabetta, Barbuti Andrea, Rossini Alessandra
Abstract excerpt
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....
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