Aug 2026· Stem Cell Research· Vol 95, pp.
104074
· 0 citations· 2 references
Medicine
TL;DR
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.
Abstract
Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder caused by mutations in the DMD gene, resulting in the absence of functional dystrophin. The loss of dystrophin disrupts the dystrophin-associated protein complex (DAPC), leading to progressive degeneration of skeletal and cardiac muscles. Clinically, DMD is characterized by proximal muscle weakness, respiratory insufficiency, and dilated cardiomyopathy. Here, we report the generation of three induced pluripotent stem cell (iPSC) lines reprogrammed from peripheral blood mononuclear cells (PBMCs) of patients with DMD. These patient-derived iPSC lines constitute a relevant human cellular model for studying disease-associated phenotypes and evaluating potential therapeutic strategies.
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
Spinal muscular atrophy (SMA) is a genetic disorder characterized by the degeneration of motor neurons, leading to progressive muscle weakness and atrophy due to the deficiency of the survival motor neuron (SMN) protein. Here, we established an induced pluripotent stem cell (iPSC) line AUSCIi001-A from erythroid progenitor cells enriched from peripheral blood mononuclear cells of a 2-year-old male individual with SMA using the integration-free Sendai reprogramming method.We demonstrated that the iPSCs are free of exogenous Sendai reprogramming vectors, have a normal male karyotype, express undifferentiated hPSCs' markers, and differentiate into the three germ layers. The iPSC line can serve as a valuable resource to generate cellular model systems to investigate molecular mechanisms underlying SMA.
Ekin Doğan, Z. Aksoy, B. Ergin et al.· Stem Cell Research· 0 citations
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 patients with Fabry disease. Both females and males are affected by this X-linked disease. We generated and characterized induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two female patients carrying a heterozygous GLA mutation. The two Fabry disease patient-derived iPSC lines are thoroughly characterized and genetically accurate, valuable human cell resources for preclinical research.
Debarun Patra, David G. T. Cabrera, Xiaochun Yang et al.· Stem Cell Research· 0 citations
Anew in vitromodel for modeling Duchenne muscular dystrophy, derived from pediatric patient with a unique mutation in DMD gene is introduced. Peripheral blood was used as asource for primary cells (mononuclear cells) and subsequently reprogrammed into induced pluripotent stem cells with synthetic Sendai vector. Reprogrammed iPS cells showed the expression of pluripotency factors and the ability to differentiateinto all three germ layers.
Dominika Hajduchova, Stanislava Suroviaková, S. Mersakova et al.· Stem Cell Research· 0 citations
DOK7-related Congenital Myasthenic Syndrome (CMS) is a rare genetic neuromuscular junction disorder. This is one of the most common of the recessive forms of CMS, often presenting with more static proximal weakness (hence also referred to as limb girdle CMS). Whole-genome sequencing of affected patients implicates frameshift duplication mutations in DOK7 as drivers of impaired neuromuscular-junction signaling. In this study, we generated a human induced pluripotent stem cell (hiPSC) line TRNDi045-A-38 from the KOLF2.1J reference line, engineered to carry homozygous DOK7 c.1124_1127dupTGCC mutation knock-in using CRISPR/Cas9. This iPSC line could be used for in vitro disease modeling to study disease pathophysiology and for therapeutic development.
B. M. Jones, Miao Xu, J. Zou et al.· Stem Cell Research· 0 citations
We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line derived from dermal fibroblasts of a patient with Skogholt’s disease, a rare maternally inherited neurodegenerative syndrome associated with choroid plexus dysfunction and impaired cerebrospinal fluid (CSF) homeostasis. Patient fibroblasts were reprogrammed using the non-integrating Repro-OSKGM kit. The resulting iPSC line exhibited typical pluripotent morphology, expressed canonical pluripotency markers, maintained a normal karyotype, retained the disease-associated genetic variant, was mycoplasma-free, and demonstrated trilineage differentiation potential. We also made choroid plexus (ChP) like organoids from the generated iPSCs. This patient-specific iPSC line provides a valuable resource for generating choroid plexus organoids and neurons to investigate disease mechanisms and develop therapeutic strategies.
