Significant advances are being made in the study of musculoskeletal disease. Where conditions like Duchenne muscular dystrophy (DMD) were once seen as untreatable, hope now swells as gene therapies advance into the market. Critical to the study and treatment of conditions like DMD is the use of physiologically relevant musculoskeletal disease models. As immortalised human muscle cell lines can be difficult to access, and animal myoblast cell lines are phenotypically distinct from their in vivo counterparts, many in the field are now turning to a more physiologically accurate source of cells: iPSC-derived myocytes [1].
bit.bio’s deterministic cell programming technology (known as opti-ox™) makes it possible to generate functional human skeletal muscle cells with unmatched lot-to-lot consistency from iPSCs on a nearly limitless scale (all without the challenges typically associated with myocyte differentiation). Both wild-type and disease-specific myocytes are readily available, enabling researchers to study skeletal myocytes in vitro with ever more translational power.
Leveraging genetically matched controls, human iPSC-derived skeletal myocytes containing DMD mutations can be used to screen prospective therapeutics, including exon-skipping therapies and other advanced drug modalities.
Strengthen your research with bit.bio’s human iPSC-derived skeletal myocytes.
Dr Rita Horvath, Director of Research in Genetics of Rare Neurological Disorders at the University of Cambridge discusses the mechanical and metabolic roles of myocytes in health and disease, experimental limitations and new opportunities offered by consistent, scalable human myocytes for muscle research and disease modelling.
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Bernard, et al
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2024
Dr Grace Cooper | Senior Scientist | bit.bio
Human Cell Forum 2025
Session 1 Track 2 | From cells to systems: Building human iPSC-derived models of pain, neuromuscular junctions, and glial dynamics
Dr Sara Martin | Scientist | Axxam
Human Cell Forum 2025
Session 3 | Making complex human biology compatible with modern drug discovery workflows
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Dr Will Bernard | Director of Cell Type Development | bit.bio
Prof Hagan Bayley | University of Oxford
Dr Mark Kotter | Founder and CEO | bit.bio
Dr Luke Flatt | Senior Scientist | Charles River Laboratories
Dr Will Bernard | Senior Scientist | bit.bio
Dr Marieke Aarts | Principal Scientist | Bi/ond
Amanda Turner | Senior Product Manager | bit.bio
The study and treatment of conditions like Duchenne muscular dystrophy (DMD) rely on the use of physiologically relevant disease models to more accurately mimic disease pathology in vitro and test emerging gene therapies. The gold standard for modelling musculoskeletal disease in vitro is primary human muscle cells or primary skeletal myocytes, as these are closest to native human biology. However, limited tissue availability and donor variability make them difficult to scale for drug discovery. Consequently, researchers often use alternative models, such as immortalised cell lines or animal myoblast cell lines. C2C12 mouse-derived stem cells are commonly used as they are easy to culture and scale, but they lack physiological relevance to human biology. Emerging models, including human iPSC-derived muscle cells, aim to bridge this gap by offering both physiological relevance and scalability for more predictive research.
Human iPSC-derived skeletal myocytes offer an alternative to immortalised cell lines or animal myoblasts, which often lack physiological relevance. Generated using opti-ox technology, cryopreserved, post-mitotic human iPSC-derived ioSkeletal Myocytes provide a physiologically relevant source of human cells with high lot-to-lot consistency, which is critical for reproducible translational research.
To model musculoskeletal diseases like Duchenne muscular dystrophy (DMD), scientists can access genetically engineered human skeletal myocytes carrying specific mutations, such as Exon 44, 45, 51 and 52 deletions. When paired with genetically matched wild-type controls, these cells allow for the screening of advanced drug modalities, such as exon-skipping therapies, within a defined, consistent human background.
bit.bio’s human iPSC-derived skeletal myocytes can be co-cultured with other relevant cell types, such as ioMotor Neurons, to model complex neuromuscular systems in vitro. This capability is critical for studying the neuromuscular junction and broader mechanisms involved in musculoskeletal and neuromuscular disorders.
1. Danisovic L, Culenova M, Csobonyeiova M (2018) Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy. Cells. 2018 Dec 7;7(12):253. doi: 10.3390/cells7120253. PMCID: PMC6315586 PMID: 30544588