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Updated: Jun 25, 2026

Introducing Point Mutations into Human Pluripotent Stem Cells Using Seamless Genome Editing
Published on: May 10, 2020
Generation and characterization of a human induced pluripotent stem cell line (SNUi001-A) harboring the MT-ND4
Hun Ji Choi1, Young Sam Im2, Taehun Yoon1
1Interdisciplinary Program in Stem Cell Biology, College of Medicine, Seoul National University, Seoul, the Republic of Korea.
Abstract:
Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy caused by mutations in mitochondrial DNA. To facilitate disease modeling and the investigation of pathogenetic mechanisms, we generated an induced pluripotent stem cell (iPSC) line, SNUi001-A, derived from the peripheral blood mononuclear cells (PBMCs) of a patient carrying the m.11778G>A mutation in the MT-ND4 gene. The iPSCs were generated using non-integrating episomal vectors. These reprogrammed cells maintained the patient-specific mutation, expressed key pluripotency markers, and demonstrated the potential for multilineage differentiation into all three germ layers.
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