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ioSkeletal Myocytes
DMD Exon 52 Deletion

Human iPSC-derived Duchenne muscular dystrophy model

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Confidently investigate your phenotype of interest across multiple clones with our disease model clone panel. Detailed characterisation data (below) and bulk RNA sequencing data (upon request) help you select specific clones if required.

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Human iPSC-derived Duchenne muscular dystrophy model

ioSkeletal Myocytes DMD Exon 52 Deletion are opti‑ox deterministically programmed skeletal myocytes carrying a genetically engineered hemizygous deletion in exon 52 of the DMD gene encoding the dystrophin protein. These cells offer a rapidly maturing, consistent, scalable system to study Duchenne muscular dystrophy in a functional human cell model.

Dystrophin restoration has been demonstrated by ASO-mediated exon skipping. Additionally, the disease model cells form 3D muscle cell bundles that show weaker contraction and fatigue compared to the wild-type control.

A related disease model is available with a hemizygous exon 44 deletion and both can be used alongside their genetically matched control, ioSkeletal Myocytes.

Benchtop benefits

DMD exon 52 deletion cells lack dystrophin

Disease-related phenotype

Immunocytochemistry shows a lack of dystrophin, which was successfully restored by ASO-mediated exon skipping.

Consistent iPSC-derived skeletal myocytes

Consistent

Our platform ensures consistency, scalability and reproducibility, overcoming the challenges associated with the use of primary muscle cells and immortalised cell lines.

Compare disease model skeletal myocytes with wild type control

Make True Comparisons

Pair the DMD disease model cells with the genetically matched wild-type skeletal muscle cells to study the impact of the deletion and to test methods for dystrophin restoration.

Cells arrive ready to plate


bit.bio_ioSkeletal_Myocytes_with_disease_models_timeline

ioSkeletal Myocytes DMD Exon 52 Deletion are delivered in a cryopreserved format and are programmed to mature rapidly upon revival in the recommended medium. The protocol for the generation of these cells is a two-phase process: Phase 1. Stabilisation for 3 days. Phase 2. Maintenance during which the skeletal myocytes mature.

Product specifications

Starting material

Human iPSC line

Karyotype

Normal (46, XY)

Seeding compatibility

6, 12, 24, 48, 96 & 384 well plates

Shipping info

Dry ice

Donor

Caucasian adult male, age 55-60 years old (skin fibroblast)

Vial size

Small: >2.5 x 106 viable cells
Large: >5 x 106 viable cells

Quality control

Sterility, protein expression (ICC), gene expression (RT-qPCR) and genotype validation (gel electrophoresis)

Differentiation method

opti-ox deterministic cell programming

Recommended seeding density

100,000 cells/cm2

User storage

LN2 or -150°C

Format

Cryopreserved cells

Genetic modification

Hemizygous exon 52 deletion in the DMD gene

Applications

Muscle and neuromuscular research
Disease modelling
Contractility assays
3D muscle tissue engineering

Product use

ioCells are for research use only

Technical data

Disease-related phenotype

ioSkeletal Myocytes DMD Exon Deletion disease model cells show absence of Dystrophin protein by immunocytochemistry, demonstrating a Duchenne muscular dystrophy phenotype

 ioSkeletal Myocytes DMD Exon Deletion disease model cells immunocytochemistry shows absence of Dystrophin protein

ioSkeletal Myocytes DMD Exon 44 Deletion and DMD Exon 52 Deletion disease model cells, and ioSkeletal Myocytes wild type isogenic control, were cultured in 96-well plates at a density of 32,000 cells per well, according to the user manual. Immunocytochemistry staining for Dystrophin and Myosin Heavy Chain (MHC) was carried out at day 10 post-revival. The data show robust expression of MHC, but no expression of Dystrophin in the ioSkeletal Myocytes DMD Del Ex44/Y or DMD Del Ex52/Y disease model cells compared to the wild-type control, demonstrating a Duchenne muscular dystrophy phenotype. Dystrophin was restored by ASO-mediated exon skipping. Data courtesy of Charles River Laboratories.

Highly characterised and defined

ioSkeletal Myocytes DMD Exon 52 Deletion disease model cells express skeletal muscle cell specific markers and lack expression of Dystrophin, demonstrating a Duchenne muscular dystrophy phenotype

ioSkeletal Myocytes DMD Ex 52 DMD combined ICC

Immunocytochemistry staining at day 10 post revival demonstrates robust expression of Desmin, a component of the contractile apparatus, and no expression of Dystrophin in the ioSkeletal Myocytes DMD Del Ex52/Y disease model cells, whereas ioSkeletal Myocytes, the wild type isogenic control, express both markers (upper panel). Robust expression of Myosin Heavy Chain (MHC) and the muscle transcription factor Myogenin is observed in ioSkeletal Myocytes DMD Del Ex52/Y and ioSkeletal Myocytes (lower panel). Anti-dystrophin antibody clone 2C6 (MANDYS106).

ioSkeletal Myocytes DMD Exon 52 Deletion disease model cells demonstrate classical skeletal myocyte morphology

ioSkeletal Myocytes DMD Exon 52 classical myocyte morphology shown at day 10 post revival by bright-field imaging.

ioSkeletal Myocytes DMD Exon 52 Deletion form elongated, multinucleated myocytes over 10 days, comparable to the wild-type ioSkeletal Myocytes isogenic control. Day 3 to 10 post-revival; 100X magnification.

ioSkeletal Myocytes DMD Exon 52 Deletion disease model cells demonstrate gene expression of key myogenic markers following deterministic programming

ioSkeletal Myocytes DMD Exon 52 Deletion gene expression of key myogenic markers by RT-qPCR

Following reprogramming, ioSkeletal Myocytes DMD Exon 52 Deletion (DMD DelEx52/Y) and wild type ioSkeletal Myocytes (WT Control) downregulate expression of pluripotency genes (A), while demonstrating expected expression of key myogenic markers (B). Gene expression levels were assessed by RT-qPCR (data normalised to HMBS; cDNA samples of the parental human iPSC line (hiPSC) were included as reference). Data represents day 10 post-revival samples, (n=2 replicates).

Seeding density

ioSkeletal-WT-well_plate

ioSkeletal Myocytes DMD Del Ex52/Y are compatible with plates ranging from 6 to 384 wells and are available in two vial sizes, tailored to suit your experimental needs with minimal waste. The recommended seeding density is 100,000 cells/cm2.

One small vial can plate a minimum of 0.5 x 24-well plate, 0.75 x 96-well plate, or 1 x 384-well plate. One large vial can plate a minimum of 1 x 24-well plate, 1.5 x 96-well plates, or 2 x 384-well plates.

Technical data

ASO-mediated dystrophin restoration

ioSkeletal Myocytes DMD Exon Deletion disease model cells show absence of Dystrophin protein by immunocytochemistry, demonstrating a Duchenne muscular dystrophy phenotype

bit.bio skeletal myocytes DMD exon deletion models lack dystrophin

ioSkeletal Myocytes DMD Exon 44 Deletion and DMD Exon 52 Deletion disease model cells, and ioSkeletal Myocytes wild type isogenic control, were cultured in 96-well plates at a density of 32,000 cells per well, according to the user manual. Immunocytochemistry staining for Dystrophin and Myosin Heavy Chain (MHC) was carried out at day 10 post-revival. The data show robust expression of MHC, but no expression of Dystrophin in the ioSkeletal Myocytes DMD Del Ex44/Y or DMD Del Ex52/Y disease model cells compared to the wild-type control, demonstrating a Duchenne muscular dystrophy phenotype. Data courtesy of Charles River Laboratories.

Dose-dependent ASO-mediated dystrophin restoration in ioSkeletal Myocytes DMD Exon 52 Deletion

ASO-mediated dystrophin restoration in skeletal myocytes DMD exon 52 deletion model

An exon 51 skipping phosphorodiamidate morpholino oligomer (PMO) antisense oligonucleotide (ASO) was designed based on Heemskerk et al., 2009 J Gene Med.

Efficacy was tested in ioSkeletal Myocytes DMD Exon 52 Deletion. A control non-skipping ASO (CTR PMO) and the Exon 51 skipping ASO (Ex51 PMO) were delivered by gymnosis on day 7. The Ex51 PMO ASO restored dystrophin protein in a dose-dependent manner.

Data courtesy of Mitchell Han and Marieke Aarts, formerly at Bi/ond Solutions B.V.

Reduced contraction in 3D

DMD Exon Deletion 3D muscle microtissues show weaker contraction and fatigue

Reduced contraction in 3D cultured skeletal myocytes DMD deletion models

Wild-type (WT) and DMD exon deletion disease model ioSkeletal Myocytes were cultured in 3D on the MUSbit microchip (Bi/ond), which includes pillars designed for anchoring muscle cell bundles. Muscle microtissues developed over 14 days.

When compared to the genetically matched control (WT) at day 14, the DMD Exon 44 Deletion and Exon 52 Deletion models showed weaker contraction upon twitch and tetanus stimuli (A), and fatigue under sustained stimulation (B).

The 3D muscle microtissues provide a relevant model to study how exon deletions in the dystrophin gene affect muscle contraction.

Data courtesy of M. Han and M. Aarts, formerly at Bi/ond Solutions BV.

Product resources

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Human iPSC-derived DMD skeletal myocytes for 3D functional studies and dystrophin restoration Poster
Human iPSC-derived DMD skeletal myocytes for 3D functional studies and dystrophin restoration

Bernard, et al

bit.bio

2024

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ioSkeletal Myocytes Brochure
ioSkeletal Myocytes

bit.bio

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Advancements in 3D modeling: Building mature, functional 3D skeletal muscle microtissues in vitro Webinar
Advancements in 3D modeling: Building mature, functional 3D skeletal muscle microtissues in vitro

Dr Marieke Aarts | Principal Scientist | Bi/ond

Amanda Turner | Senior Product Manager | bit.bio

Watch now
Generation of 3D skeletal muscle microtissues using ioSkeletal Myocytes Poster
Generation of 3D skeletal muscle microtissues using ioSkeletal Myocytes

Dr Mitchell Han

Bi/ond

2023

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Introducing ioSkeletal Myocytes | Developing the next generation of human muscle cells Video
Introducing ioSkeletal Myocytes | Developing the next generation of human muscle cells

Dr Will Bernard | Director of Cell Type Development | bit.bio

Watch
Research in Motion with ioSkeletal Myocytes Webinar
Research in Motion with ioSkeletal Myocytes

Dr Luke Flatt | Senior Scientist | Charles River Laboratories

Dr Will Bernard | Senior Scientist | bit.bio




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Cell culture hacks | human iPSC-derived skeletal myocytes 

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Human iPSC-derived skeletal myocytes

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