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Series GSE117382 Query DataSets for GSE117382
Status Public on Nov 11, 2019
Title Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Skeletal muscle stem cells, called satellite cells, are responsible for postnatal muscle growth, homeostasis and regeneration. Attempts to utilize the regenerative potential of muscle stem cells for therapeutic purposes so far failed. The transcription factor Pax7 defines satellite cells across species 1-4 . We previously established human PAX7-positive cell colonies with high regenerative potential 5 . We now identified PAX7-negative human muscle-derived cell colonies (PAX7neg) also positive for the myogenic markers desmin and MYF5. These included cells from a unique myopathic patient with rigid spine and respiratory insufficiency due to a homozygous PAX7 c.86-1G>A mutation (PAX7null). Single cell and bulk transcriptome analysis showed high intra- and inter-donor heterogeneity and revealed the endothelial cell marker CLEC14A to be highly expressed in PAX7null cells. All PAX7neg cell populations, including PAX7null, formed myofibers after transplantation into mice, and regenerated muscle after reinjury. Transplanted PAX7neg cells repopulated the satellite cell niche where they re-expressed PAX7. Strikingly, PAX7null cells expressing CLEC14A were also identified below the basal lamina. In summary, transplanted human cells do not depend on PAX7 for muscle regeneration. Thus, Pax7 is not a suitable marker for selection of optimal cells for muscle regenerative therapies.
Overall design Eleven human primary myoblasts cell lines with and without PAX7 expression were analysed using single- cell or bulk RNA-seq. For single-cell experiments we analysed myoblast subpopulations with and without PAX7 expression from the same donor as well as myoblasts from a patient with PAX7 deficiency. Bulk RNA-seq included a PAX7-positive and a PAX7-negative myoblast cell line and myoblasts from the patient with PAX7 deficiency.
Contributor(s) Marg A, Karaiskos N, Grunwald S, Sauer S, Kocks C, Rajewsky N, Spuler S
Citation(s) 31852888
Submission date Jul 19, 2018
Last update date Feb 10, 2020
Contact name Nikos Karaiskos
Organization name Max Delbrück Center for Molecular Medicine
Lab Systems Biology of Gene Regulatory Elements
Street address Hannoversche Str. 28
City Berlin
ZIP/Postal code 10115
Country Germany
Platforms (2)
GPL15520 Illumina MiSeq (Homo sapiens)
GPL18573 Illumina NextSeq 500 (Homo sapiens)
Samples (24)
GSM3293620 PAX7pos-A: Donor A - PAX7 positive myoblast population
GSM3293621 PAX7pos-A_rep2: Donor A - PAX7 positive myoblast population
GSM3293622 PAX7pos-C: Donor C - PAX7 positive myoblast population
BioProject PRJNA481958
SRA SRP154452

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Supplementary file Size Download File type/resource
GSE117382_RAW.tar 123.6 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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