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

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/Cas...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Caleb Jerred, Haribaskar Ramachandran, Barbara Hildebrandt, Annika Zink, Natascia Ventura, Andrea Rossi, Alessandro Prigione
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2026-08-01
Cyfres:Stem Cell Research
Mynediad Ar-lein:http://www.sciencedirect.com/science/article/pii/S187350612600098X
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