Submit to IJMS Review for IJMS Propose a Special Issue

Journal Menu

Journal Browser

Frontiers on Induced Pluripotent Stem Cells (iPSCs)

Special Issue Editors
Special Issue Information
Keywords
Published Papers

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (30 December 2023) | Viewed by 7610

Share This Special Issue

Special Issue Editor

Dr. Alessandro Romano

E-Mail Website
Guest Editor

Division of Neuroscience, Experimental Neurology Unit, San Raffaele Scientific Institute, 20132 Milano, Italy
Interests: neurodegenerative disesases; amyotropic lateral sclerosis (ALS); human induced pluripotent stem cell models of disease; extracellular vesicles; protein aggregation; RNA metabolism
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Advances in stem cell research offer promising ways of studying embryonic development, cell physiology, disease mechanisms, therapeutic targets, drug toxicity mechanisms, and regeneration. Human iPSC-derived specific cell lineages (such as neurons or cardiomyocytes) are structurally, functionally, and metabolically immature in nature. Due to immature phenotypes, they do not truly recapitulate cell physiology, and they also do not show a eresponse to standard drugs and toxicants. Though immature in nature, many studies have shown its potential application in drug screening, disease modelling, drug discovery, and stem cell therapies. The generation of matured iPSC-derived cell lineages is highly important in animal-test-free drug discovery, disease models, and stem-cell therapies.

This Special Issue is dedicated to highlighting recent and promising developments in the field of stem-cell research. This issue is focusing on the following topics: maturation strategies in iPSC-derived cell lineages, iPSC-based disease models, disease mechanisms in iPSC models, fluorescent screening markers in iPSC models, novel potential pharmacological targets, new drug-screening platforms, tissue regeneration approaches, and the impact of immature cells on drug discovery and stem-cell therapies. We are welcoming original manuscripts and reviews focusing on these topics that will help with understanding of recent advancements and challenges in these areas.

Dr. Alessandro Romano
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

in vitro models
drug screening
disease models
regeneration
drug screening technologies
therapeutic targets
fluorescent screening markers
disease mechanisms

Published Papers (4 papers)

Download All Papers

Research

Jump to: Review

13 pages, 3095 KiB

Open AccessArticle

Cost-Effective Mechanical Aggregation of Cardiac Progenitors and Encapsulation in Matrigel Support Self-Organization in a Dynamic Culture Environment

by Tiago P. Dias, Sandra N. Pinto, Sandra Carvalho, Tiago G. Fernandes, Fábio Fernandes, Maria Margarida Diogo, Maria C. Peleteiro, Manuel Prieto and Joaquim M. S. Cabral

Int. J. Mol. Sci. 2022, 23(24), 15785; https://doi.org/10.3390/ijms232415785 - 13 Dec 2022

Cited by 1 | Viewed by 1651

Abstract

Human iPSC-derived self-organized cardiac tissues can be valuable for the development of platforms for disease modeling and drug screening, enhancing test accuracy and reducing pharmaceutical industry financial burden. However, current differentiation systems still rely on static culture conditions and specialized commercial microwells for aggregation, which hinders the full potential of hiPSC-derived cardiac tissues. Herein, we integrate cost-effective and reproducible manual aggregation of hiPSC-derived cardiac progenitors with Matrigel encapsulation and a dynamic culture to support hiPSC cardiac differentiation and self-organization. Manual aggregation at day 7 of cardiac differentiation resulted in 97% of beating aggregates with 78% of cTnT-positive cells. Matrigel encapsulation conjugated with a dynamic culture promoted cell migration and the creation of organized structures, with observed cell polarization and the creation of lumens. In addition, encapsulation increased buoyancy and decreased coalescence of the hiPSC-derived cardiac aggregates. Moreover, VEGF supplementation increased over two-fold the percentage of CD31-positive cells resulting in the emergence of microvessel-like structures. Thus, this study shows that the explored culture parameters support the self-organization of hiPSC-derived cardiac microtissues containing multiple cardiac cell types. Additional stimuli (e.g., BMP) in long-term scalable and fully automatized cultures can further potentiate highly structured and mature hiPSC-derived cardiac models, contributing to the development of reliable platforms for high-throughput drug screening and disease modeling. Full article

(This article belongs to the Special Issue Frontiers on Induced Pluripotent Stem Cells (iPSCs))

► Show Figures

Figure 1

26 pages, 6121 KiB

Open AccessArticle

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

by María del Carmen Ortuño-Costela, Victoria Cerrada, Ana Moreno-Izquierdo, Inés García-Consuegra, Camille Laberthonnière, Mégane Delourme, Rafael Garesse, Joaquín Arenas, Carla Fuster García, Gema García García, José María Millán, Frédérique Magdinier and María Esther Gallardo

Int. J. Mol. Sci. 2022, 23(22), 13964; https://doi.org/10.3390/ijms232213964 - 12 Nov 2022

Cited by 5 | Viewed by 1718

Abstract

McArdle disease is a rare autosomal recessive disorder caused by mutations in the PYGM gene. This gene encodes for the skeletal muscle isoform of glycogen phosphorylase (myophosphorylase), the first enzyme in glycogenolysis. Patients with this disorder are unable to obtain energy from their glycogen stored in skeletal muscle, prompting an exercise intolerance. Currently, there is no treatment for this disease, and the lack of suitable in vitro human models has prevented the search for therapies against it. In this article, we have established the first human iPSC-based model for McArdle disease. For the generation of this model, induced pluripotent stem cells (iPSCs) from a patient with McArdle disease (harbouring the homozygous mutation c.148C>T; p.R50* in the PYGM gene) were differentiated into myogenic cells able to contract spontaneously in the presence of motor neurons and generate calcium transients, a proof of their maturity and functionality. Additionally, an isogenic skeletal muscle model of McArdle disease was created. As a proof-of-concept, we have tested in this model the rescue of PYGM expression by two different read-through compounds (PTC124 and RTC13). The developed model will be very useful as a platform for testing drugs or compounds with potential pharmacological activity. Full article

(This article belongs to the Special Issue Frontiers on Induced Pluripotent Stem Cells (iPSCs))

► Show Figures

Figure 1

10 pages, 2404 KiB

Open AccessCommunication

Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene

by Cecilia Cattelani, Ingrid Battistella, Francesca Di Leva, Giulia Fioravanti, Francesco Benedicenti, Franco Stanzial, Christine Schwienbacher, Francesca Fanelli, Peter P. Pramstaller, Andrew A. Hicks, Luciano Conti and Corrado Corti

Int. J. Mol. Sci. 2022, 23(21), 13095; https://doi.org/10.3390/ijms232113095 - 28 Oct 2022

Cited by 2 | Viewed by 1612

Abstract

Mutations in the SZT2 gene have been associated with developmental and epileptic encephalopathy-18, a rare severe autosomal recessive neurologic disorder, characterized by psychomotor impairment/intellectual disability, dysmorphic facial features and early onset of refractory seizures. Here we report the generation of the first induced pluripotent stem cell (iPSC) lines from a patient with treatment-resistant epilepsy, carrying compound heterozygous mutations in SZT2 (Mut1: c.498G>T and Mut2: c.6553C>T), and his healthy heterozygous parents. Peripheral blood mononuclear cells were reprogrammed by a non-integrating Sendai virus-based reprogramming system. The generated human iPSC lines exhibited expression of the main pluripotency markers, the potential to differentiate into all three germ layers and presented a normal karyotype. These lines represent a valuable resource to study neurodevelopmental alterations, and to obtain mature, pathology-relevant neuronal populations as an in vitro model to perform functional assays and test the patient’s responsiveness to novel antiepileptic treatments. Full article

(This article belongs to the Special Issue Frontiers on Induced Pluripotent Stem Cells (iPSCs))

► Show Figures

Figure 1

Review

Jump to: Research

11 pages, 1025 KiB

Open AccessReview

Pluripotent Stem Cells of Order Carnivora: Technical Perspective

by Aleksei G. Menzorov

Int. J. Mol. Sci. 2023, 24(4), 3905; https://doi.org/10.3390/ijms24043905 - 15 Feb 2023

Viewed by 1371

Abstract

Human and mouse induced pluripotent stem cells (PSCs) are widely used for studying early embryonic development and for modeling of human diseases. Derivation and studying of PSCs from model organisms beyond commonly used mice and rats may provide new insights into the modeling and treating human diseases. The order Carnivora representatives possess unique features and are already used for modeling human-related traits. This review focuses on the technical aspects of derivation of the Carnivora species PSCs as well as their characterization. Current data on dog, feline, ferret, and American mink PSCs are summarized. Full article

(This article belongs to the Special Issue Frontiers on Induced Pluripotent Stem Cells (iPSCs))

► Show Figures