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


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 expression of pluripotency markers and embryoid body-based differentiation into cell types representative of each of the three germ layers. The generated iPSC line provides a powerful tool to investigate LS and analyze the molecular mechanisms underlying NDUFS1 mutations-induced pathology. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Valente O, Dobner J, Ramachandran H, Hildebrandt B, Distelmaier F, Ventura N, Rossi A
Journal Stem cell research
Publication Date 2022 Nov 14;65:102971
PubMed 36403546
DOI 10.1016/j.scr.2022.102971

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