TY - JOUR
T1 - 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
AU - Meraviglia, Viviana
AU - Benzoni, Patrizia
AU - Landi, Sara
AU - Murano, Carmen
AU - Langione, Marianna
AU - Motta, Benedetta M.
AU - Baratto, Serena
AU - Silipigni, Rosamaria
AU - Di Segni, Marina
AU - Pramstaller, Peter P.
AU - DiFrancesco, Dario
AU - Gazzerro, Elisabetta
AU - Barbuti, Andrea
AU - Rossini, Alessandra
PY - 2018/3/1
Y1 - 2018/3/1
N2 - 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]
AB - 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]
UR - http://www.scopus.com/inward/record.url?scp=85039871663&partnerID=8YFLogxK
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U2 - 10.1016/j.scr.2017.12.012
DO - 10.1016/j.scr.2017.12.012
M3 - Article
AN - SCOPUS:85039871663
VL - 27
SP - 25
EP - 29
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -