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Updated: Sep 9, 2025

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

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来自患者的iPSC线的生成和表征,CSSi022-A (15666),具有致病MFN2突变,导致夏科特-玛丽-图斯病2A型

Angela Maria Giada Giovenale1, Ilaria Ferrone2, Silvia Tomaselli2

  • 1Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG, Italy; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.

Stem cell research
|August 31, 2025
PubMed
概括

研究人员从患有夏科-玛丽-图斯2A型疾病 (CMT2A) 的患者中制造出诱导多能干细胞. 这些CMT2A干细胞为实验室中研究这种罕见的神经病提供了一种新途径.

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iPS Cell Differentiation01:22

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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EPS and iPS Cells in Disease Research01:21

EPS and iPS Cells in Disease Research

Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
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