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Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).
Spaltro G, Vigorelli V, Casalnuovo F, Spinelli P, Castiglioni E, Rovina D, Paganini S, Di Segni M, Nigro P, Gervasini C, Pompilio G, Gowran A. Spaltro G, et al. Among authors: di segni m. Stem Cell Res. 2017 Dec;25:128-131. doi: 10.1016/j.scr.2017.10.018. Epub 2017 Oct 28. Stem Cell Res. 2017. PMID: 29127875 Free article.
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.
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. Meraviglia V, et al. Among authors: di segni m. Stem Cell Res. 2018 Mar;27:25-29. doi: 10.1016/j.scr.2017.12.012. Epub 2017 Dec 18. Stem Cell Res. 2018. PMID: 29304398 Free article.
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55).
Gowran A, Spaltro G, Casalnuovo F, Vigorelli V, Spinelli P, Castiglioni E, Rovina D, Paganini S, Di Segni M, Gervasini C, Nigro P, Pompilio G. Gowran A, et al. Among authors: di segni m. Stem Cell Res. 2018 Apr;28:21-24. doi: 10.1016/j.scr.2018.01.025. Epub 2018 Feb 2. Stem Cell Res. 2018. PMID: 29414413 Free article.
Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50.
Ermon B, Volpato CB, Cattelan G, Silipigni R, Di Segni M, Cantaloni C, Casella M, Pramstaller PP, Pompilio G, Sommariva E, Meraviglia V, Rossini A. Ermon B, et al. Among authors: di segni m. Stem Cell Res. 2018 Oct;32:78-82. doi: 10.1016/j.scr.2018.09.003. Epub 2018 Sep 6. Stem Cell Res. 2018. PMID: 30219716 Free PMC article.
Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A).
Rovina D, Castiglioni E, Farini A, Bellichi M, Gervasini C, Paganini S, Di Segni M, Santoro R, Torrente Y, Pompilio G, Gowran A. Rovina D, et al. Among authors: di segni m. Stem Cell Res. 2019 Oct;40:101544. doi: 10.1016/j.scr.2019.101544. Epub 2019 Aug 20. Stem Cell Res. 2019. PMID: 31465894 Free article.
Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene.
Zanon A, Riekschnitz D, von Troyer M, Volpato C, Picard A, Cantaloni C, Di Segni M, Silipigni R, Pramstaller PP, Hicks AA, Pichler I. Zanon A, et al. Among authors: di segni m. Stem Cell Res. 2019 Dec;41:101624. doi: 10.1016/j.scr.2019.101624. Epub 2019 Oct 25. Stem Cell Res. 2019. PMID: 31715428 Free article.
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
Rovina D, Castiglioni E, Niro F, Farini A, Belicchi M, Di Fede E, Gervasini C, Paganini S, Di Segni M, Torrente Y, Santoro R, Pompilio G, Gowran A. Rovina D, et al. Among authors: di fede e, di segni m. Stem Cell Res. 2020 May;45:101819. doi: 10.1016/j.scr.2020.101819. Epub 2020 Apr 22. Stem Cell Res. 2020. PMID: 32348941 Free PMC article.
Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation.
Meraviglia V, Cattelan G, De Bortoli M, Motta BM, Volpato C, Frommelt LS, Rauhe W, Di Segni M, Silipigni R, Pramstaller PP, Rossini A. Meraviglia V, et al. Among authors: di segni m. Stem Cell Res. 2021 Aug;55:102466. doi: 10.1016/j.scr.2021.102466. Epub 2021 Jul 15. Stem Cell Res. 2021. PMID: 34298432 Free article.
88 results