Pluripotent Stem Cell Models of Human Disease

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

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. Biomolecules is an international peer-reviewed open access monthly 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.

• 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