Aug 2026· Stem Cell Research· Vol 95, pp. 104087 - 104087· 1 citation· 7 references
Medicine
TL;DR
Induced pluripotent stem cell lines derived from two Marfan syndrome patients with mutations in the FBN1 gene exhibited typical iPSC morphology, normal karyotype, undifferentiated states, and trilineage differentiation capacity.
Abstract
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.
Two patient-derived induced pluripotent stem cell lines generated from clinically diagnosed HHT donors carrying heterozygous ACVRL1 mutations show expected iPSC morphology, robust expression of markers of the undifferentiated iPSC state, genomic stability by LP-WGS, and tri-lineage differentiation capacity.
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Four induced pluripotent stem cell lines from peripheral blood mononuclear cells (PBMCs) obtained from members of a family carrying a heterozygous c.184C > T RPS19 mutation exhibiting variable clinical manifestations of Diamond-Blackfan anemia are generated.
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Patient-derived induced pluripotent stem cells (hiPSC) are a valuable approach to model cardiovascular diseases and nucleofected non-integrating episomal vectors in skin fibroblasts of four family members are a reliable source to study the effect of the identified mutation in a physiologically relevant environment.
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Three induced pluripotent stem cell lines reprogrammed from peripheral blood mononuclear cells (PBMCs) of patients with DMD constitute a relevant human cellular model for studying disease-associated phenotypes and evaluating potential therapeutic strategies.
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Fabry disease is a rare genetic disease caused by loss-of-function in the GLA gene. This gene encodes the lysosomal enzyme α-galactosidase A (α-Gal A). A deficiency of α-Gal A results in the globotriaosylceramide buildup throughout the major organs, which is associated with increased mortality from cardiac disease in p...
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This patient-specific iPSC line provides a valuable resource for generating choroid plexus organoids and neurons to investigate disease mechanisms and develop therapeutic strategies to investigate disease mechanisms and develop therapeutic strategies.
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