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

Viviana Meraviglia, Patrizia Benzoni, Sara Landi, Carmen Murano, Marianna Langione, Benedetta M. Motta, Serena Baratto, Rosamaria Silipigni, Marina Di Segni, Peter P. Pramstaller, Dario DiFrancesco, Elisabetta Gazzerro, Andrea Barbuti, Alessandra Rossini

Research output: Contribution to journalArticle

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 [Table presented]

Original languageEnglish
Pages (from-to)25-29
Number of pages5
JournalStem Cell Research
Volume27
DOIs
Publication statusPublished - Mar 1 2018

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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    Meraviglia, V., Benzoni, P., Landi, S., Murano, C., Langione, M., Motta, B. M., Baratto, S., Silipigni, R., Di Segni, M., Pramstaller, P. P., DiFrancesco, D., Gazzerro, E., Barbuti, A., & Rossini, A. (2018). 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, 27, 25-29. https://doi.org/10.1016/j.scr.2017.12.012