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Article

Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics.

Nature communications - 16 Mar 2026

Hsieh Yu-Hsin, Kautz Pauline, Nitsch Lena, Giguelay Ambre M, Liebold Janet, Dimitrova Veronika, Contreras Castillo Stephania, Jungen Freya, Zsurka Gabor, Trombly Genevieve, Schuelke Markus, Kunz Wolfram S, Lareau Caleb A, Ludwig Leif S

Abstract excerpt

Mitochondrial DNA (mtDNA) mutations occur more frequently than nuclear mutations and are associated with various diseases. While single-cell sequencing enables mtDNA variant heteroplasmy analysis, a holistic view of mtDNA mutational landscapes in individual cells has remained limited. Here, we leverage mitochondrial single-cell ATAC-seq and mtDNA-hypermutated POLGD274A knock-in HEK293 cell lines to introduce two...

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Identifiers

PMID: 41839886
DOI: 10.1038/s41467-026-70399-y
PMCID: PMC12996611

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