scholarly journals Prospect of Induced Pluripotent Stem Cell Genetic Repair to Cure Genetic Diseases

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Jeanne Adiwinata Pawitan
Keyword(s):  
Pluripotent Stem Cell ◽  
Genetic Diseases ◽  
Induced Pluripotent Stem Cell ◽  
Exon Skipping ◽  
Immune Rejection ◽  
Normal Cells ◽  
Genetic Aberration ◽  
Transfer Method ◽  
Induced Pluripotent ◽  
Gene Transfer Method

In genetic diseases, where the cells are already damaged, the damaged cells can be replaced by new normal cells, which can be differentiated from iPSC. To avoid immune rejection, iPSC from the patient’s own cell can be developed. However, iPSC from the patients’s cell harbors the same genetic aberration. Therefore, before differentiating the iPSCs into required cells, genetic repair should be done. This review discusses the various technologies to repair the genetic aberration in patient-derived iPSC, or to prevent the genetic aberration to cause further damage in the iPSC-derived cells, such as Zn finger and TALE nuclease genetic editing, RNA interference technology, exon skipping, and gene transfer method. In addition, the challenges in using the iPSC and the strategies to manage the hurdles are addressed.

Abstract P343: Physiologic Mechanical Stress In An Induced Pluripotent Stem Cell Derived Cardiomyocyte Model Of Duchene Muscular Dystrophy-related Cardiomyopathy Treated With A Membrane Resealant

2021 ◽  
Vol 129 (Suppl_1) ◽  
Author(s):  
Dominic E Fullenkamp ◽  
Jodi L Curtin ◽  
Ansel P Amaral ◽  
Sloane I Harris ◽  
Paul W Burridge ◽  
...  
Keyword(s):  
Stem Cell ◽  
Muscular Dystrophy ◽  
Cardiac Muscle ◽  
Pluripotent Stem Cell ◽  
Troponin T ◽  
Induced Pluripotent Stem Cell ◽  
Exon Skipping ◽  
Gene Encoding ◽  
Ldh Release ◽  
Induced Pluripotent

Heart failure is leading cause of morbidity and mortality in the X-linked disease Duchenne muscular dystrophy (DMD). DMD is due to mutations the gene encoding dystrophin. Dystrophin localizes to the costamere in skeletal and cardiac muscle and is part of the larger dystrophin complex, which forms a critical connection linking the sarcomere to extracellular matrix. Disruptions in this complex lead to membrane fragility and multiple forms of muscular dystrophy, most of which have significant cardiac involvement. Therapeutic strategies for DMD include FDA-approved agents for exon skipping, as well as micro-dystrophins gene therapy, which is currently in clinical trials. Despite this progress, there is inadequate information as to how these and other novel agents will affect the DMD heart. Given the critical importance of cardiac muscle efficacy for any therapeutic for DMD and importance of membrane fragility in the disease phenotype, we assessed the susceptibility of patient-derived induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) harboring an out-of-frame exon 46-47 DMD deletion. iPSC-CMs were reprogrammed via a standard approach and differentiated, expanded, and purified by published methods. Troponin T flow cytometry was performed to and a minimum troponin T positivity >85% positivity was set for inclusion. DMD and control cells were plated onto flexible silicone membranes and subjected to equibiaxial strain as physiologic mechanical stressor, consistent with the inciting pathologic insult in DMD. Troponin and LDH release were assessed as clinically-relevant biomarkers of injury. Physiologic stress parameters were defined using troponin and LDH release relative to unstressed conditions. A membrane resealant being developed for treating DMD was shown to reduce troponin and LDH release in DMD iPSC-CMs, and also showed benefit in control cells. This work provides a ready platform for assessing therapeutics that target not only DMD-related cardiomyopathy, but other forms of cardiomyopathy and myocardial injury.

scholarly journals Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant

2022 ◽  
Vol 58 ◽  
pp. 102616
Author(s):  
Flavie Ader ◽  
Laetitia Duboscq-Bidot ◽  
Sibylle Marteau ◽  
Matthieu Hamlin ◽  
Pascale Richard ◽  
...  
Keyword(s):  
Stem Cell ◽  
Cell Line ◽  
Pluripotent Stem Cell ◽  
Induced Pluripotent Stem Cell ◽  
Exon Skipping ◽  
Stem Cell Line ◽  
Induced Pluripotent

Use of 3D culture systems to generate human induced pluripotent stem cell-derived [beta]-cells in vitro

2018 ◽  
Author(s):  
Fantuzzi Federica ◽  
Toivonen Sanna ◽  
Schiavo Andrea Alex ◽  
Pachera Nathalie ◽  
Rajaei Bahareh ◽  
...  
Keyword(s):  
Stem Cell ◽  
Beta Cells ◽  
Pluripotent Stem Cell ◽  
3D Culture ◽  
Induced Pluripotent Stem Cell ◽  
Culture Systems ◽  
Induced Pluripotent
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