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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Caveolin 3 / genetics
  • Caveolin 3 / metabolism*
  • Cell Differentiation / genetics
  • Cell Differentiation / physiology
  • Cells, Cultured
  • Cellular Reprogramming / genetics
  • Cellular Reprogramming / physiology
  • Flow Cytometry
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism*
  • Karyotype
  • Leukocytes, Mononuclear / cytology*
  • Leukocytes, Mononuclear / metabolism*
  • Mutation / genetics
  • Mutation, Missense / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Caveolin 3