Pluripotent Stem Cell Models of Human Disease

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Cellular Biochemistry".

Deadline for manuscript submissions: 30 November 2025 | Viewed by 1097

Special Issue Editor


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Guest Editor
Division of Human Genetics & South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, McAllen, TX 78504, USA
Interests: molecular and cellular biology; pluripotent stem cell (iPSC); iPSC-derived cell models; 3D tissue organoids; disease phenotype; genetic influence; novel approaches in disease gene identification; omics technologies; neurodegenerative diseases; cardiovascular diseases; lung adenocarcinoma; nonalcoholic fatty liver disease; hepatocellular carcinoma; genotype×environment interaction

Special Issue Information

Dear Colleagues,

In recent years, the progress in pluripotent stem cell (PSC) models of human disease, particularly in induced pluripotent stem cell (iPSC) technology, now allows us to consider non-invasive modeling of human disease in cell type(s) that are specific to the disease and recapitulate the genetic identity of their donor. The robust reprogramming of a variety of easily obtainable somatic cells into iPSCs, including the lymphoblastoid cell lines that have been stored from the subjects of epidemiological and genetic studies worldwide, for whom a variety of disease, phenotypic, and omics data already exists, has opened up opportunities for large-scale studies of disease causation, risk factors, and biomarker identification. Coupled with advancements in PSC differentiation methods to generate disease-relevant cells and complex 3D tissue organoids and analytical techniques for unbiased targeted and genome-wide measurement of modeled cells and tissues, including single-cell phenotypic and multi-omics analyses, PSC models have emerged as powerful tools for investigating human disease causation, pathophysiology, and the development of new diagnostics and therapeutics.

The journal Biomolecules is set to publish a Special Issue titled "Pluripotent Stem Cell Models of Human Disease" to showcase and facilitate the dissemination of current innovative approaches being used in the development, utilization, and analysis of pluripotent stem cell-based models of human disease.

I am pleased to invite you to contribute an original research article or a comprehensive review to this Special Issue. The research areas may include, but are not limited to, the following topics:

  1. Innovative approaches in cellular reprogramming.
  2. Methodological advances in generating disease-relevant cells and 3D tissue models, including the use of biomatrices, biomaterials, and 3D bioprinting.
  3. PSC-derived models of human diseases:
    1. Modeling and analysis of disease-relevant cellular phenotypes.
    2. Biomarkers and disease gene discovery approaches.
    3. Molecular mechanisms of disease.
    4. Metabolic and environmental stress in disease predisposition.
    5. Diagnostic and therapeutic target identification.
  4. Advances in multidimensional cellular phenotyping (cytochemistry, flow cytometry, microscopy, high content screening, and electrophysiology) and multi-omics (epigenomic, transcriptomic, proteomic, lipidomic, and metabolomic) analyses of PSC-based disease models.
  5. Bioinformatics and system biology approaches to disease mechanisms using PSC-based disease models.
  6. Genome editing approaches in modeling human disease in PSC-derived cells.
  7. Use of PSC-derived models in drug discovery and drug screening approaches.

I look forward to receiving your contributions.

Dr. Satish Kumar
Guest Editor

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Keywords

  • pluripotent stem cells
  • cellular reprogramming
  • cellular differentiation
  • 2D and 3D cell models of human disease
  • cellular phenotypes
  • biomarkers
  • disease gene
  • multi-omics approaches
  • genome editing
  • drug screening and discovery

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Published Papers (1 paper)

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Research

22 pages, 6749 KiB  
Article
Neurocellular Stress Response to Mojave Type A Rattlesnake Venom: Study of Molecular Mechanisms Using Human iPSC-Derived Neural Stem Cell Model
by Satish Kumar, Miriam Aceves, Jose Granados, Lorena Guerra, Felicia Juarez, Earl Novilla, Ana C. Leandro, Marcelo Leandro, Juan Peralta, Sarah Williams-Blangero, Elda E. Sanchez, Jacob A. Galan, John Blangero and Joanne E. Curran
Biomolecules 2025, 15(3), 381; https://doi.org/10.3390/biom15030381 - 6 Mar 2025
Viewed by 655
Abstract
The Mojave rattlesnake venom shows significant geographical variability. The venom of Type A animals primarily contains β-neurotoxin referred to as Mojave Toxin (MTX), which makes bites from this snake particularly feared. We performed a genome-wide transcriptomic analysis of the neurocellular response to Mojave [...] Read more.
The Mojave rattlesnake venom shows significant geographical variability. The venom of Type A animals primarily contains β-neurotoxin referred to as Mojave Toxin (MTX), which makes bites from this snake particularly feared. We performed a genome-wide transcriptomic analysis of the neurocellular response to Mojave Type A rattlesnake venom using induced pluripotent stem cell-derived neural stem cells to unveil the molecular mechanisms underlying the damage caused by this snake’s envenomation. Our results suggest that snake venom metalloproteases, although having a limited repertoire in Type A venom, facilitate venom spread by digesting the tissue’s extracellular matrix. The MTX, which is composed of heterodimers of basic and acidic phospholipase-A2, co-opts the host arachidonic acid and Ca2+ second messenger mechanisms and triggers multiple signaling cascades, such as the activation of MAPKs and NF-κB-regulated proinflammatory genes; the neurotransmitter overload in excitatory synapses leading to a presynaptic blockade of nerve signals; and the upregulation of unfolded protein response (UPR) due to the depletion of Ca2+ from the endoplasmic reticulum. The upregulated UPR and the oxidative stress caused by reactive oxygen species generated in cytochromeP4501A1-mediated hydroxylation of arachidonic acid contribute to mitochondrial toxicity. The activation of UPR, mitochondrial toxicity, and oxidative stress synergistically contributed to apoptotic and ferroptotic cell death. Full article
(This article belongs to the Special Issue Pluripotent Stem Cell Models of Human Disease)
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