Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes.
Authors:Dell'Era P, Benzoni P, Crescini E, Valle M, Xia E, Consiglio A, Memo M,
Journal:
PubMed ID:25815118
Causative mutations and variants associated with cardiac diseases have been found in genes encoding cardiac ion channels, accessory proteins, cytoskeletal components, junctional proteins, and signaling molecules. In most cases the functional evaluation of the genetic alteration has been carried out by expressing the mutated proteins in in-vitro heterologous systems. While ... More
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation.
Authors:Mura M, Lee YK, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M
Journal:Stem Cell Res
PubMed ID:30974404
'We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a male carrier of the heterozygous mutation c.1781?G?>?A p.R594Q on the KCNQ1 gene. hiPSCs, generated using four retroviruses each encoding for OCT4, SOX2, KLF4 and cMYC, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating ... More
Reprogramming of Urine-Derived Renal Epithelial Cells into iPSCs Using srRNA and Consecutive Differentiation into Beating Cardiomyocytes.
Authors:Steinle H, Weber M, Behring A, Mau-Holzmann U, von Ohle C, Popov AF, Schlensak C, Wendel HP, Avci-Adali M
Journal:Mol Ther Nucleic Acids
PubMed ID:31476669
'The generation of induced pluripotent stem cells (iPSCs) from patient''s somatic cells and the subsequent differentiation into desired cell types opens up numerous possibilities in regenerative medicine and tissue engineering. Adult cardiomyocytes have limited self-renewal capacity; thus, the efficient, safe, and clinically applicable generation of autologous cardiomyocytes is of great ... More
Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models.
Authors:Barthélémy F, Wang RT, Hsu C, Douine ED, Marcantonio EE, Nelson SF, Miceli MC
Journal:Mol Ther Nucleic Acids
PubMed ID:31678734
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models. In humans with Duchenne muscular dystrophy treated with AOs, low levels of dystrophin have been induced, and modest slowing of disease progression has ... More
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.
Authors:Mura M, Lee YK, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M
Journal:Stem Cell Res
PubMed ID:31009818
We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a woman carrier of the heterozygous mutation c.568C?>?T p.R190W on the KCNQ1 gene. hiPSCs, obtained using four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously ... More