Creating Cell Model 2.0 Using Patient Samples Carrying a Pathogenic Mitochondrial DNA Mutation: iPSC Approach for LHON

Pragya Singh, Tyler Bahr, Xiaoxu Zhao, Peiqing Hu, Marcel Daadi, Tao Sheng Huang, Yidong Bai

Producción científica: Chapter

2 Citas (Scopus)

Resumen

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.

Idioma originalEnglish (US)
Título de la publicación alojadaMethods in Molecular Biology
EditorialHumana Press
Páginas219-231
Número de páginas13
DOI
EstadoPublished - 2022

Serie de la publicación

NombreMethods in Molecular Biology
Volumen2549
ISSN (versión impresa)1064-3745
ISSN (versión digital)1940-6029

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology

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