Helmholtz Gemeinschaft

Search
Browse
Statistics
Feeds

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

[thumbnail of Article]
Preview
PDF (Article) - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
289kB
[thumbnail of Supplementary Material] Other (Supplementary Material)
1MB

Item Type:Editorial
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
Creators Name: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. and Rossini, A.
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.
Keywords:Caveolin 3, Cell Differentiation, Cellular Reprogramming, Cultured Cells, Flow Cytometry, Induced Pluripotent Stem Cells, Karyotype, Missense Mutation, Mononuclear Leukocytes, Mutation, Reverse Transcriptase Polymerase Chain Reaction
Source:Stem Cell Research
ISSN:1873-5061
Publisher:Elsevier
Volume:27
Page Range:25-29
Date:March 2018
Official Publication:https://doi.org/10.1016/j.scr.2017.12.012
PubMed:View item in PubMed

Repository Staff Only: item control page

Downloads

Downloads per month over past year

Open Access
MDC Library