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Cited by 26Muscle Physiology and DisordersPluripotent Stem Cells ResearchNeurogenetic and Muscular Disorders Research

iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling

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Guo, Dongsheng, Daman, Katelyn, Chen, Jennifer JC, Shi, Meng-Jiao, Yan, Jing, Matijasevic, Zdenka, Rickard, Amanda M, Bennett, Monica H +8 more·2022·eLife
DOI 10.7554/elife.70341PMC PMC8789283
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Abstract

Skeletal muscle myoblasts (iMyoblasts) were generated from human induced pluripotent stem cells (iPSCs) using an efficient and reliable transgene-free induction and stem cell selection protocol. Immunofluorescence, flow cytometry, qPCR, digital RNA expression profiling, and scRNA-Seq studies identify iMyoblasts as a PAX3+/MYOD1+ skeletal myogenic lineage with a fetal-like transcriptome signature, distinct from adult muscle biopsy myoblasts (bMyoblasts) and iPSC-induced muscle progenitors. iMyoblasts can be stably propagated for >12 passages or 30 population doublings while retaining their dual commitment for myotube differentiation and regeneration of reserve cells. iMyoblasts also efficiently xenoengrafted into irradiated and injured mouse muscle where they undergo differentiation and fetal-adult MYH isoform switching, demonstrating their regulatory plasticity for adult muscle maturation in response to signals in the host muscle. Xenograft muscle retains PAX3+ muscle progenitors and can regenerate human muscle in response to secondary injury. As models of disease, iMyoblasts from individuals with Facioscapulohumeral Muscular Dystrophy revealed a previously unknown epigenetic regulatory mechanism controlling developmental expression of the pathological DUX4 gene. iMyoblasts from Limb-Girdle Muscular Dystrophy R7 and R9 and Walker Warburg Syndrome patients modeled their molecular disease pathologies and were responsive to small molecule and gene editing therapeutics. These findings establish the utility of iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease pathogenesis and for the development of muscle stem cell therapeutics.

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  • Pretrained Geneformer cell embeddings of cells undergoing iPSC to myoblast differentiation captured the earlier S1 (PAX3+) and later S2B (PAX3+/MYOD+) stages.

    “UMAP of pretrained Geneformer cell embeddings of cells undergoing iPSC to myoblast differentiation at the earlier S1 (PAX3+) and later S2B (PAX3+/MYOD+) stages”

    From Transfer learning enables predictions in network biology (2023) · cites this paper as [16]

    The Results section on scRNA-seq (page unavailable) identifies an earlier PAX3-expressing S1 cluster and a more differentiated S2B subcluster expressing MYOD1. The paper used Seurat to analyze the cells and visualize clusters with UMAP; it does not report pretrained Geneformer embeddings or establish PAX3 expression specifically in S2B. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • Embeddings of genes in iPSC-derived myogenic cells showed similar context awareness with in silico differentiation via MYOD.

    “Embeddings of genes in iPSC-derived myogenic cells16 showed similar context awareness with in silico differentiation via MYOD (Extended Data Fig. 2d–e).”

    From Transfer learning enables predictions in network biology (2023) · cites this paper as [16]

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Authors
Guo, D., Daman, K., Chen, J. J., Shi, M.-J., Yan, J., Matijasevic, Z., Rickard, A. M., Bennett, M. H., Kiselyov, A., Zhou, H., Bang, A. G., Wagner, K. R., Maehr, R., King, O. D., Hayward, L. J., & Emerson, C. P.
Affiliations
  • University of Massachusetts Chan Medical School (US)
  • Wellstone Muscular Dystrophy Program, Department of Neurology, University of Massachusetts Chan Medical School
  • Genea Biocells
  • Sanford Burnham Prebys Medical Discovery Institute (US)
  • Kennedy Krieger Institute (US)
Corresponding author
Emerson, Charles P
ORCID
Venue
eLife
Publisher
eLife Sciences Publications, Ltd
Published
2022-01-25
Volume
11
ISSN
2050-084X (ISSN-L)
DOI
10.7554/elife.70341
PMC
PMC8789283
OpenAlex
W4207066841
Cited by
26
References
8
Citations by year
2026: 2 · 2025: 10 · 2024: 2 · 2023: 7 · 2022: 5
FWCI
1.10
Type
journal article
Language
en
Open access
Licence
Locations
  • eLife (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • The Journal of the American Medical Association (JAMA) Network (American Medical Association) (submittedVersion, cc-by)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Muscular Dystrophy Association (480265, 577797)
  • National Institutes of Health (HD060848, 3R37HD007796)
  • LGMD 2I Fund
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
  • Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
Keywords
skeletal myoblasts, induced pluripotent stem cells, myogenesis, disease modeling, Pax3, MyoD, muscle regeneration, DUX4, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, Walker-Warburg syndrome, epigenetic regulation
MeSH terms
PAX3 Transcription Factor, Animals, Cell Differentiation, Cell Line, Cells, Cultured, Disease Models, Animal, Humans, Regeneration, Homeodomain Proteins, Cell Lineage, Recovery of Function, Muscular Dystrophy, Facioscapulohumeral, Muscle Development, Myoblasts, Mice, Induced Pluripotent Stem Cells

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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