91探花

Duchenne muscular dystrophy (DMD) is a fatal, X-linked genetic disorder characterised by the progressive degeneration of skeletal and cardiac muscle. DMD is caused by mutations in the dystrophin gene. Without functional dystrophin, muscle cells become highly susceptible to mechanical stress during contraction, leading to progressive muscle degeneration.

Duchenne muscular dystrophy (DMD) research has historically been hindered by the poor translatability of animal DMD models and the high variability of primary human myoblasts. There is a need for consistent, human-relevant models that accurately capture disease pathophysiology in vitro to support the development of next-generation therapies.

DMD ioDisease Model Cells are human iPSC-derived skeletal myocytes engineered with common, disease-causing exon deletions, specifically exon 44, 45, 51, and 52. These exon deletions result in the loss of dystrophin protein expression, providing a highly defined model for studying how specific genetic signatures impact muscle cell function and structural integrity. 

The lot-to-lot consistency of ioSkeletal Myocytes combined with the engineered exon deletions, removes the limitations of donor variability and genetic polymorphisms found in primary patient-derived human muscle cells. Scientists can quantify the restoration of dystrophin protein and evaluate the subsequent functional recovery in ioSkeletal Myocytes, making them a robust and relevant in vitro human cellular model to investigate ASO-mediated exon skipping and other gene-restoration strategies.

When cultured as 3D microtissues or traditional monolayers, ioSkeletal Myocytes DMD disease models exhibit functional phenotypic differences compared to the genetically matched wild-type control. 

91探花 provides a genetically matched wild-type control to enable confidence that any observed phenotypes are a result of the DMD exon deletions rather than donor-to-donor genetic variability. Comparing DMD ioSkeletal Myocytes against the wild-type control baseline allows the isolation of disease mechanisms and therapeutic effects in a controlled experimental setup.