Marfan syndrome is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular systems. Here, we generated and characterized induced pluripotent stem cell (iPSC) lines derived from two Marfan syndrome patients with mutations in the FBN1 gene (c.3333C > A and c.8854_8562delinsTATCAC). Both lines exhibited typical iPSC morphology, normal karyotype, undifferentiated states, and trilineage differentiation capacity. These iPSCs serve to enable investigation into the mechanisms underlying Marfan syndrome for therapeutic discovery.
Byron W H Mui, M. Chorsi, Christopher D. Yan et al.· Stem Cell Research· 0 citations
Heart failure is a major clinical and economic burden that afflicts 60 million individuals worldwide. Guideline-directed medical therapies can slow disease progression, but they cannot restore the loss of cardiomyocytes. Over the past two decades, human pluripotent stem cell (hPSC)-based technology has emerged as a leading approach to overcome limited cardiac regenerative capacity, offering a scalable source of functional human cardiomyocytes. The field is now at a pivotal translational stage, as advances in differentiation and tissue engineering have enabled hPSC-based products to enter first-in-human clinical trials. In this review, we summarize the pathophysiological rationale for cell-based therapy in heart failure with reduced ejection fraction. Then, we examine the preclinical foundations of distinct hPSC-derived product formats, including cell suspensions, epicardial sheets, engineered heart muscle, and cardiac spheroids, each with distinct tradeoffs and translational considerations. We conclude by providing updates on ongoing and recently completed clinical trials, evaluating their safety, feasibility, and preliminary efficacy outcomes.
Byron W H Mui, E. Neofytou, Joseph C. Wu· Cell Reports Medicine· 0 citations
