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

被引：1
|
作者：
Valente, Onofrio [1 ]
Dobner, Jochen [1 ]
Ramachandran, Haribaskar [1 ]
Hildebrandt, Barbara [2 ]
Distelmaier, Felix [3 ]
Ventura, Natascia [1 ,4 ]
Rossi, Andrea [1 ]
机构：
[1] IUF Leibniz Res Inst Environm Med, Dusseldorf, Germany
[2] Heinrich Heine Univ Dusseldorf, Med Fac, Inst Human Genet, Dusseldorf, Germany
[3] Heinrich Heine Univ, Med Fac, Dept Gen Pediat Neonatol & Pediat Cardiol, Dusseldorf, Germany
[4] Heinrich Heine Univ Dusseldorf, Med Fac, Inst Clin Chem & Lab Diagnost, Dusseldorf, Germany
来源：
STEM CELL RESEARCH | 2022年 / 65卷
关键词：
D O I：
10.1016/j.scr.2022.102971
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：4
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