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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

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Item Type:Article
Title: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
Creators Name:Meraviglia, V. and Benzoni, P. and Landi, S. and Murano, C. and Langione, M. and Motta, B.M. and Baratto, S. and Silipigni, R. and Di Segni, M. and Pramstaller, P.P. and DiFrancesco, D. and Gazzerro, E. and Barbuti, A. and Rossini, A.
Abstract: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.
Source:Stem Cell Research
ISSN:1873-5061
Publisher:Elsevier (The Netherlands)
Volume:27
Page Range:25-29
Date:March 2018
Official Publication:https://doi.org/10.1016/j.scr.2017.12.012
PubMed:View item in PubMed

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