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

doi:10.1016/j.scr.2017.12.012

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 journal › Article › peer-review

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 language	English
Pages (from-to)	25-29
Number of pages	5
Journal	Stem Cell Research
Volume	27
DOIs	https://doi.org/10.1016/j.scr.2017.12.012
Publication status	Published - 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

Meraviglia, V, Benzoni, P, Landi, S, Murano, C, Langione, M, Motta, BM, Baratto, S, Silipigni, R , Di Segni, M, Pramstaller, PP, 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, vol. 27, pp. 25-29. https://doi.org/10.1016/j.scr.2017.12.012

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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",

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]",

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

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doi = "10.1016/j.scr.2017.12.012",

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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]

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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

Abstract

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