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Updated: Jun 17, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
Inferring clonal somatic mutations directed by X chromosome inactivation status in single cells
Ilke Demirci1, Anton J M Larsson1, Xinsong Chen2
1Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden.
None:
Analysis of clonal dynamics in human tissues is enabled by somatic genetic variation. Here, we show that analysis of mitochondrial mutations in single cells is dramatically improved in females when using X chromosome inactivation to select informative clonal mutations. Applying this strategy to human peripheral mononuclear blood cells reveals clonal structures within T cells that otherwise are blurred by non-informative mutations, including the separation of gamma-delta T cells, suggesting this approach can be used to decipher clonal dynamics of cells in human tissues.
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