Work

Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C)

Year: 2025

Type: article

Abstract: iPSC-based models are valuable for studying the mechanisms and potential treatments of mitochondrial disorders. We generated two iPSC lines from fibroblasts of a patient with a novel MT-ATP6/8 mutation (m.8570 T > C). The infant was diagnosed with a mitochondrial disease featuring cardiac hypertrophy, brain atrophy, developmental delay, and metabolic crises with elevated lactate. Mutation heteroplasmy in blood leukocytes was 95 %. Leigh syndrome-like cranial MRI abnormalities were absent at 4 months of age. We introduced reprogramming factors by Sendai virus and assessed the pluripotency of the resulting iPSCs. As control iPSC-line, we characterized the CRMi004-A line from the RUCDR repository.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103732

Authors: Anna Maria Haschke, Sebastian Diecke, Harald Stachelscheid, Markus Schuelke

Institutions: Humboldt-Universität zu Berlin, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, NeuroCure Cluster of Excellence, Charité - Universitätsmedizin Berlin, Max Delbrück Center

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360