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

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Item Type:	Article
Title:	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
Creators Name:	Henke, M.T., Zink, A., Diecke, S., Prigione, A. and Schuelke, M.
Abstract:	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 of heteroplasmy as their source fibroblasts (>97.0 %). In maternal iPSCs, the heteroplasmy remained 0.0 % in the case of the m.8993 T > G mutation and dropped from 55.0 % to 1.0 % in the case of m.9176 T > G mutation.
Keywords:	Cell Differentiation, Induced Pluripotent Stem Cells, Leigh Disease, Mitochondrial Proton-Translocating ATPases, Mother-Child Relations, Mutation
Source:	Stem Cell Research
ISSN:	1873-5061
Publisher:	Elsevier
Volume:	67
Page Range:	103030
Date:	March 2023
Official Publication:	https://doi.org/10.1016/j.scr.2023.103030
PubMed:	View item in PubMed

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