Aug 2026· Stem Cell Research· Vol 95, pp.
104078
· 0 citations· 1 references
Medicine
TL;DR
The established induced pluripotent stem cell line AUSCIi001-A from erythroid progenitor cells enriched from peripheral blood mononuclear cells of a 2-year-old male individual with SMA is established using the integration-free Sendai reprogramming method.
Abstract
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.
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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