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Creating Cell Model 2.0 Using Patient Samples Carrying a Pathogenic Mitochondrial DNA Mutation: iPSC Approach for LHON
Abstract
Leber's Hereditary Optic Neuropathy is the most prevalent mitochondrial neurological disease caused by mutations in mitochondrial DNA encoded respiratory complex I subunits. Although the genetic origin for Leber's hereditary optic neuropathy was identified about 30 years ago, the underlying pathogenesis is still unclear primarily due to the lack of a relevant system or cell model. Current models are limited to lymphoblasts, fibroblasts, or cybrid cell lines. As the disease phenotype is limited to retinal ganglion cells, induced pluripotent stem cells will serve as an excellent model for studying this tissue-specific disease, elucidating its underlying molecular mechanisms, and identifying novel therapeutic targets. Here, we describe a detailed protocol for the generation of retinal ganglion cells, and also cardiomyocytes for proof of iPSC pluripotency.
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Recent advances in generating induced pluripotent stem cells (iPSCs) from primary cells of affected patients have led to the creation of model cell lines with specific mtDNA mutations.
“Recent advances in generating induced pluripotent stem cells (iPSCs) from primary cells of affected patients has also led to the creation of model cell lines with specific mtDNA mutations [160,161,162].”
From The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics (2022) · cites this paper as [160]
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Research works printed but not linked: 16
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Cited by
Sorted by citations
The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics
Saravanan, S., Lewis, C. J., Dixit, B., O’Connor, M. S., Stolzing, A., & Boominathan, A. (2022) · Biomedicines · doi:10.3390/biomedicines10020490 · Cited by 13
Metadata
- Authors
- Singh, P., Bahr, T., Zhao, X., Hu, P., Daadi, M., Huang, T., & Bai, Y.
- Venue
- Methods in Molecular Biology
- Publisher
- Springer US
- Published
- 2021
- Pages
- 219-231
- ISSN
- 1064-3745
- 1940-6029
- Cited by
- 3
- References
- 0
- Language
- en
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