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Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene.

Stem cell research - 1 Dec 2022

Valente Onofrio, Dobner Jochen, Ramachandran Haribaskar, Hildebrandt Barbara, Distelmaier Felix, Ventura Natascia, Rossi Andrea

Abstract excerpt

Human dermal fibroblasts from a Leigh Syndrome (LS) patient harboring the heterozygous NDUFS1 R557X/D618N compound mutation were reprogrammed to generate integration-free induced pluripotent stem cells (iPSCs). The full characterization of IUFi002-A-iPSCs demonstrated that the line is free of exogenous reprogramming genes and maintains the genomic integrity. IUFi002-A-iPSCs' pluripotency was confirmed by the...

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Identifiers

PMID: 36403546
DOI: 10.1016/j.scr.2022.102971

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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