Patient-specific induced pluripotent stem cells as “disease-in-a-dish” models for inherited cardiomyopathies and channelopathies – 15 years of research

In the past decades, researchers discovered the contribution of genetic defects to the pathogenesis of primary cardiomyopathy and tried to explain the pathogenesis of these diseases by establishing a variety of disease models. Although human heart tissues and primary cardiomyocytes have advantages in modeling human heart diseases, they are difficult to obtain and culture in vitro. Defects developed in genetically modified animal models are notably different from human diseases at the molecular level. The advent of human induced pluripotent stem cells (hiPSCs) provides an unprecedented opportunity to further investigate the pathogenic mechanisms of inherited cardiomyopathies in vitro using patient-specific hiPSC-derived cardiomyocytes. In this review, we will make a summary of recent advances in in vitro inherited cardiomyopathy modeling using hiPSCs.

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Faculty Opinions recommendation of Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717970938.793473728 ◽

2013 ◽

Author(s):

Thomas Hund

Keyword(s):

Stem Cells ◽

Hypertrophic Cardiomyopathy ◽

Induced Pluripotent Stem Cells ◽

Pluripotent Stem Cells ◽

Familial Hypertrophic Cardiomyopathy ◽

Calcium Handling ◽

Patient Specific ◽

Induced Pluripotent

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Faculty Opinions recommendation of Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718528132.793500091 ◽

2014 ◽

Author(s):

A Koneti Rao ◽

Natthapol Songdej

Keyword(s):

Stem Cells ◽

Induced Pluripotent Stem Cells ◽

Pluripotent Stem Cells ◽

Patient Specific ◽

Induced Pluripotent ◽

Runx1 Mutation

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Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader–Willi syndrome retain maternal uniparental disomy (UPD)

Stem Cell Research ◽

10.1016/j.scr.2019.101647 ◽

2019 ◽

Vol 41 ◽

pp. 101647

Author(s):

Bo-Young Kim ◽

Jin-Sung Lee ◽

Yong-Ou Kim ◽

Mi-Hyun Park ◽

Soo Kyung Koo

Keyword(s):

Stem Cells ◽

Induced Pluripotent Stem Cells ◽

Pluripotent Stem Cells ◽

Uniparental Disomy ◽

Patient Specific ◽

Prader Willi Syndrome ◽

Maternal Uniparental Disomy ◽

Induced Pluripotent

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Temporal mechanisms of myogenic specification in human induced pluripotent stem cells

Science Advances ◽

10.1126/sciadv.abf7412 ◽

2021 ◽

Vol 7 (12) ◽

pp. eabf7412

Author(s):

P. Nayak ◽

A. Colas ◽

M. Mercola ◽

S. Varghese ◽

S. Subramaniam

Keyword(s):

Stem Cells ◽

Induced Pluripotent Stem Cells ◽

Pluripotent Stem Cells ◽

Patient Specific ◽

Cellular Processes ◽

Transcriptional Cofactors ◽

Extracellular Matrix Components ◽

Cell Subpopulations ◽

Longitudinal Comparison ◽

Induced Pluripotent

Understanding the mechanisms of myogenesis in human induced pluripotent stem cells (hiPSCs) is a prerequisite to achieving patient-specific therapy for diseases of skeletal muscle. hiPSCs of different origin show distinctive kinetics and ability to differentiate into myocytes. To address the unique cellular and temporal context of hiPSC differentiation, we perform a longitudinal comparison of the transcriptomic profiles of three hiPSC lines that display differential myogenic specification, one robust and two blunted. We detail temporal differences in mechanisms that lead to robust myogenic specification. We show gene expression signatures of putative cell subpopulations and extracellular matrix components that may support myogenesis. Furthermore, we show that targeted knockdown of ZIC3 at the outset of differentiation leads to improved myogenic specification in blunted hiPSC lines. Our study suggests that β-catenin transcriptional cofactors mediate cross-talk between multiple cellular processes and exogenous cues to facilitate specification of hiPSCs to mesoderm lineage, leading to robust myogenesis.

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The Promise of Human Induced Pluripotent Stem Cells in Dental Research

Stem Cells International ◽

10.1155/2012/423868 ◽

2012 ◽

Vol 2012 ◽

pp. 1-10 ◽

Cited By ~ 9

Author(s):

Thekkeparambil Chandrabose Srijaya ◽

Padmaja Jayaprasad Pradeep ◽

Rosnah Binti Zain ◽

Sabri Musa ◽

Noor Hayaty Abu Kasim ◽

...

Keyword(s):

Stem Cells ◽

Induced Pluripotent Stem Cells ◽

Pluripotent Stem Cells ◽

Disease Modeling ◽

Patient Specific ◽

Dental Research ◽

Cell Based Therapy ◽

Induced Pluripotent ◽

Disease Specific

Induced pluripotent stem cell-based therapy for treating genetic disorders has become an interesting field of research in recent years. However, there is a paucity of information regarding the applicability of induced pluripotent stem cells in dental research. Recent advances in the use of induced pluripotent stem cells have the potential for developing disease-specific iPSC linesin vitrofrom patients. Indeed, this has provided a perfect cell source for disease modeling and a better understanding of genetic aberrations, pathogenicity, and drug screening. In this paper, we will summarize the recent progress of the disease-specific iPSC development for various human diseases and try to evaluate the possibility of application of iPS technology in dentistry, including its capacity for reprogramming some genetic orodental diseases. In addition to the easy availability and suitability of dental stem cells, the approach of generating patient-specific pluripotent stem cells will undoubtedly benefit patients suffering from orodental disorders.

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