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.

引用

页数：4

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