Work

Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome

Year: 2026

Type: article

Abstract: NDUFS1 is a critical component of mitochondrial respiratory chain Complex I (CI). Pathogenic variants of NDUFS1 can cause Leigh syndrome (LS), a severe pediatric mitochondrial disorder. To model NDUFS1-linked LS, we generated an iPSC line with homozygous missense mutations in exon 8 using CRISPR/Cas9. The cell line demonstrated typical morphology, expression of iPSC markers, ability to differentiate into all three germ layers, and genomic integrity. This model will enable the study of LS caused by CI in an isogenic context.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.104002

Authors: Caleb Jerred, Haribaskar Ramachandran, Barbara Hildebrandt, Annika Zink, Natascia Ventura, Andrea Rossi, Alessandro Prigione

Institutions: Düsseldorf University Hospital, Heinrich Heine University Düsseldorf, Leibniz Institute of Environmental Medicine, San Raffaele University of Rome

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

Funders: French Muscular Dystrophy Association, European Commission, Deutsche Forschungsgemeinschaft, AFM-Téléthon

Awards: G1624297764, G2006524542, G2394859496, G2891152797, G3273537443, G3920004174, G4070936242, G451495830, G5097688832, G5432480649, G6336480404, G7438367324, Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular disorders by exploiting SIMilarities in clinical and molecular PATHology, G929944738

OpenAlex ID: W7160028191

FWCI: 1.842

Cites: 9

Cited by: 1

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