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Article

Generation and characterization of a human induced pluripotent stem cell line (SNUi001-A) harboring the MT-ND4 m.11778G>A mutation.

Stem cell research - 1 Sept 2026

Choi Hun Ji, Im Young Sam, Yoon Taehun, Min Se Hee, Song Jae Ryong, Jung Jae Ho

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Humans
Induced Pluripotent Stem Cells
Optic Atrophy, Hereditary, Leber
Cell Differentiation
Mutation
NADH Dehydrogenase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Cell Line

Leukocytes, Mononuclear

DNA, Mitochondrial

Source

Identifiers

PMID: 42335579
DOI: 10.1016/j.scr.2026.104043

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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Generation and characterization of a human induced pluripotent stem cell line (SNUi001-A) harboring the MT-ND4 m.11778G>A mutation.PMID 42335579Read ↗

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