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Stem Cell Res. 2018 Mar;27:25-29. doi: 10.1016/j.scr.2017.12.012. Epub 2017 Dec 18.

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.

Author information

1
Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany.
2
The PaceLab, Department of Biosciences, Università degli Studi di Milano, Italy.
3
Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
4
Laboratory of Medical Genetics, Fondazione IRCCS Ca´ Granda, Ospedale Maggiore Policlinico, Milano, Italy.
5
Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy; Muscle Research Unit, Experimental and Clinical Research Center, A Joint Cooperation of the Charité University Medicine Berlin and the Max Delbrück Center for Molecular Medicine, Berlin, Germany.
6
The PaceLab, Department of Biosciences, Università degli Studi di Milano, Italy. Electronic address: andrea.barbuti@unimi.it.
7
Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany. Electronic address: Alessandra.Rossini@eurac.edu.

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. Resource table.

PMID:
29304398
DOI:
10.1016/j.scr.2017.12.012
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