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mtDNA heteroplasmy

Biomarker1 paper2 findings

  • Cells1

Associations

2

Induced mesenchymal stem cell

downin human cells1

1 study
  1. Induced mesenchymal stem cell is associated with mtDNA heteroplasmy in human cells.

    “and a progressive reduction in heteroplasmic variants predicted to have pathogenic potential, including m.7913C>T and m.7821G>A”

    Cellscellular reprogramming into iPSCs and differentiation to iMSCs

    Characterization of the Mitochondrial Genome Landscape in MSCs, iPSCs and iMSCs from Osteoarthritis Patients and Healthy Donors · Genes · 11 Sep 2026

Osteoarthritis

upin human cells1

1 study
  1. Osteoarthritis is associated with mtDNA heteroplasmy in human cells.

    “OA-derived MSCs exhibited a markedly increased heteroplasmic burden, followed by decrease in mtDNA copy number and accumulation of non-synonymous variants”

    Cellsbone marrow mesenchymal stem cell

    Characterization of the Mitochondrial Genome Landscape in MSCs, iPSCs and iMSCs from Osteoarthritis Patients and Healthy Donors · Genes · 11 Sep 2026

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