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Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations.

Stem cell research - 1 Mar 2023

Henke Marie-Thérèse, Zink Annika, Diecke Sebastian, Prigione Alessandro, Schuelke Markus

Abstract excerpt

We generated two pairs of mother-child iPSCs lines for Maternally Inherited Leigh Syndrome (MILS) carrying the m.8993 T > G and m.9176 T > G mutations in the MT-ATP6 gene. We delivered reprogramming factors OCT4, SOX2, KLF4, and c-MYC via Sendai virus. All iPSCs lines had a normal karyotype, expressed pluripotency markers, and differentiated into the three germ layers. Both patient-iPSCs retained the same degrees...

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Identifiers

PMID: 36669241
DOI: 10.1016/j.scr.2023.103030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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