iPSC-Based Models and Genetic Mechanisms of Human Disease

Dear Colleagues,

This Special Issue, titled "iPSC-Based Models and Genetic Mechanisms of Human Disease," is aimed at bringing together cutting-edge research, innovative methodologies, and high-impact scientific reviews highlighting or leveraging induced pluripotent stem cell (iPSC)-based models in identifying or better understanding the genetic mechanisms of human disease.

The collection encompasses a broad range of applications of iPSC-derived models, including the use of patient-derived iPSCs in identifying and dissecting the mechanistic architectures of rare monogenic and/or polygenic complex human disorders, large-scale application of the iPSC platform in understanding disease genetics and identifying causal genetic factors, iPSC platforms for investigating genotype-by-environment interactions, leveraging iPSC-based models in diagnostic and therapeutic target development, therapeutic screening, and use of the iPSC platform in developing regenerative strategies for human disease and tissue injuries.

Beyond disease modeling and mechanistic discoveries, the Special Issue also explores methodological advances in iPSC-based models such as new or improved iPSC differentiation protocols, modeling of disease-specific phenotypes, scalability of differentiation and disease modeling approaches to larger sample sizes, and integration with high-throughput multi-omic analytics, including single-cell and spatial genomics. The methodological advances may also include, but are not limited to, enhancing the utility of iPSC-based models using site-specific genome editing, such as combining CRISPR/Cas9 technologies, for target validation, particularly in functional validation of the genome-wide association study (GWAS) identified risk loci, generation of isogenic controls and mutant lines, and introduction of reporter systems in iPSC models for cell lineage tracing experiments.

By assimilating iPSC-based studies that span fundamental discoveries in identifying genetic and environmental causal factors of human disease, development and validation of advanced and robust diagnostics and therapeutics, development of regenerative strategies and novel approaches, with cutting-edge stem cell biology and bioengineering innovation in developing and leveraging iPSC-based models, this Special Issue of the Journal Cells provides a comprehensive and timely overview of the current progress in this field and the future horizons of the models of human disease.  

Given the depth of your expertise and interest in this field, we would like to invite you to contribute a manuscript to this Special Issue. The deadline for submissions is 31st March 2027. 

Dr. Satish Kumar
Dr. Miriam Aceves
Guest Editors

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 communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). 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.