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Series GSE129505 Query DataSets for GSE129505
Status Public on Apr 10, 2019
Title Transcriptional landscape of human myogenesis reavels a key role of TWIST1 in maintenance of skeletal muscle progenitors
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Derivation of human skeletal muscle in vitro with human pluripotent stem cells (hPSCs) opens new avenues for deciphering essential, but poorly understood aspects of transcriptional regulation in myogenic specification and relevance to rare genetic diseases. We characterized the transcriptional landscape of distinct human myogenic stages, including OCT4::EGFP+ PSCs, MSGN1::EGFP+ presomites, PAX7::EGFP+ skeletal muscle progenitors, MYOG::EGFP+ myoblasts, and multinucleated myotubes. We defined signature gene expression profiles from each population with unbiased clustering analysis, which provided unique insights into the transcriptional dynamics of human myogenesis from undifferentiated hPSCs to fully differentiated myotubes. Using knock-out strategy, we identified TWIST1 as a critical factor in maintenance of human PAX7::EGFP+ putative skeletal muscle progenitors, providing an explanation for the musculoskeletal symptoms of a rare genetic disease, Saethre-Chotzen syndrome. We have established a foundation for future studies to identify regulators of human myogenic ontogeny.
Overall design To systematically investigate the transcriptional blueprint of developing human skeletal muscle cells and to gain comprehensive insights into the molecular signatures of putative skeletal muscle stem/progenitors, we conducted step-wise isolations of stage-specific cellular subtypes during muscle differentiation in vitro and performed global gene expression analysis. Using our human genetic reporter PSC lines and a newly devised method for myotube enrichment, we isolated five distinct cell types in human embryonic myogenesis, including OCT4::EGFP+ embryonic stem cells, MSGN1::EGFP+ presomite cells, PAX7::EGFP+ putative skeletal muscle stem/precursor cells, MYOG::EGFP+ myoblast cells, and multinucleated myotubes.
Contributor(s) Lee G, Shin J, Choi IY
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Submission date Apr 09, 2019
Last update date Apr 12, 2019
Contact name Gabsang Lee
Organization name Institute for Cell Engineering, Johns Hopkins University
Department Department of Neurology and Neuroscience
Street address 733 North Broadway, Suite 747
City Baltimore
State/province MD
ZIP/Postal code 21205
Country USA
Platforms (2)
GPL16791 Illumina HiSeq 2500 (Homo sapiens)
GPL21290 Illumina HiSeq 3000 (Homo sapiens)
Samples (24)
GSM3714502 OCT4-1
GSM3714503 OCT4-2
GSM3714504 OCT4-3
BioProject PRJNA531606
SRA SRP191503

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Supplementary file Size Download File type/resource
GSE129505_RAW.tar 4.6 Mb (http)(custom) TAR (of TXT)
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Raw data are available in SRA
Processed data provided as supplementary file

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