# Interrogating functional and molecular properties of PAX7+ putative skeletal muscle stem/progenitor cells derived from human iPSCs of healthy donors and Duchenne muscular dystrophy patients

> **NIH NIH R01** · JOHNS HOPKINS UNIVERSITY · 2020 · $359,292

## Abstract

Muscle wasting, caused by aging, genetic mutations, cancan-associated cachexia, or traumatic injury,
can result in significant functional impairment, and is a challenging clinical problem with a significant
socioeconomic burden on our healthcare system.
 We have shown that functional myoblasts are readily derived from human embryonic stem cells
(hESCs) and human induced pluripotent stem cells (hiPSCs), allowing us to begin to study Duchenne muscular
dystrophy (DMD), the most common genetic disorder of muscle. However, we know little about i) how early
myogenic events are genetically controlled during development, ii) whether embryonic PAX7 expressing
myogenic stem/progenitor cells adopt postnatal `satellite-like' fate, and iii) how DMD is occurred in skeletal
muscle stem/progenitor cell stage as well as their relevance for cell replacement therapy.
 First, using multiple genetic reporter lines to recapitulate human myogenic events, we will depict a time-
course analysis of transcriptional landscape followed by `loss of function' analysis to address essential
questions regarding which critical cell intrinsic/extrinsic component(s) govern the skeletal muscle specification
process and stem cell maintenance.
 Secondly, by performing serial transplantation of human PAX7::GFP+ putative skeletal muscle
stem/progenitor cells in mouse model, we will interrogate how the embryonic cells become to postnatal
satellite-like cell fate.
 Thirdly, based on our observation on DYSTROPHIN expression in human skeletal muscle
stem/progenitor cells, we will investigate stage-specific role(s) of DYSTROPHIN and its long intergenic non-
coding RNAs (LincRNAs), in healthy and DMD condition. In addition, we will interrogate in vivo regeneration
ability of patient-specific PAX7::GFP+ cells of genetically corrected DMD-hiPSC lines.
 Our proposed experiments are expected to expand and strengthen our current conception of myogenic
specification events, and to accelerate a wide range of research on skeletal muscle disorders, e.g. traumatic
muscle damages, genetic muscular dystrophies, neuromuscular diseases, type II diabetes and cancer-induced
cachexia.

## Key facts

- **NIH application ID:** 9875438
- **Project number:** 5R01AR070751-04
- **Recipient organization:** JOHNS HOPKINS UNIVERSITY
- **Principal Investigator:** Gabsang Lee
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $359,292
- **Award type:** 5
- **Project period:** 2017-03-01 → 2022-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9875438

## Citation

> US National Institutes of Health, RePORTER application 9875438, Interrogating functional and molecular properties of PAX7+ putative skeletal muscle stem/progenitor cells derived from human iPSCs of healthy donors and Duchenne muscular dystrophy patients (5R01AR070751-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9875438. Licensed CC0.

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