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 tableImage 1Unique stem cell lines identifierEURACi001-AEURACi002-AEURACi003-AAlternative names of stem cell linesB2CAV3 (EURACi001-A)L1CAV3 (EURACi002-A)N1CAV3 (EURACi003-A)InstitutionInstitute for Biomedicine, Eurac ResearchContact information of distributorAlessandra Rossini (alessandra.rossini@eurac.edu)Type of cell linesiPSCsOriginHumanCell sourcePeripheral blood mononuclear cells (PBMCs)Method of reprogrammingElectroporation of episomal vectors (pCXLE hOCT3/4-shp53-F, pCXLE-hSK, and pCXLE-hUL)Multiline rationaleNon-isogenic cell lines obtained from patients with mutations in the same gene (CAV3)Gene modificationNOType of modificationSpontaneous mutationsAssociated diseaseCaveolinopathiesGene/locusHeterozygous CAV3 c.Δ184–192 (EURACi001-A)Heterozygous CAV3 c.303 TGG>TGC (EURACi002-A)Heterozygous CAV3 c.233 ACG>AAG (EURACi003-A)Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock dateJanuary 2016 (EURACi001-A)September 2016 (EURACi002-A)May 2016 (EURACi003-A)Cell line repository/bankN/AEthical approvalPeripheral blood was collected from patients after signing the informed consent provided by Cell Line and DNA Biobank from Patients Affected by Genetic Diseases, member of the Telethon Network of Genetic Biobanks, Istituto G. Gaslini, Genoa, Italy. The generation and use of iPSCs was reviewed and approved by Ethical Committee at Universita’ degli Studi di Milano (03.06.15, number 29/15).