4.7 Editorial Material

Implications of mitochondrial DNA mutations in human induced pluripotent stem cells

Journal

NATURE REVIEWS GENETICS
Volume 23, Issue 2, Pages 69-70

Publisher

NATURE PORTFOLIO
DOI: 10.1038/s41576-021-00430-z

Keywords

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Funding

  1. University of Bologna
  2. IRCCS Istituto delle Scienze Neurologiche
  3. National Institutes of Health [NIH U54 NS078059]
  4. Marriott Mitochondrial Disease Clinic Research Fund (MMDCRF) from the J. Willard and Alice S. Marriott Foundation
  5. Centro de Investigacion Biomedica en Red en Fragilidad y Envejecimento Saludable [CIBERFES16/10/00282]
  6. Severo Ochoa Program for Centers of Excellence [SEV-2015-0505]
  7. Wellcome Trust in the Medical Research Council Mitochondrial Biology Unit [212219/Z/18/Z, MC_UU_00015/9]
  8. NIHR Cambridge Biomedical Research Centre [BRC-1215-20014]

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Individual cells in the same iPSC-derived clones exhibit large heterogeneity, with emerging evidence suggesting that variants in mitochondrial DNA play a pivotal role. Single-cell analyses have shown significant differences in the transcriptome between individual cells in the same iPSC-derived clones, which are partly attributable to genetic and epigenetic modifications of the nuclear genome.
Individual cells in the same induced pluripotent stem cell (iPSC)-derived clones can exhibit large heterogeneity. In this Comment, Carelli et al. discuss emerging evidence implicating variants in mitochondrial DNA, and highlight the need for routine screening of iPSCs. Single-cell analyses in recent years have shown major differences in the transcriptome between individual cells in the same induced pluripotent stem cell-derived clones. Although these differences are in part attributable to genetic and epigenetic modifications of the nuclear genome, emerging evidence suggests that variants in mitochondrial DNA also play a pivotal role.

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