Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

McArdle disease is a rare autosomal recessive disorder caused by mutations in the <i>PYGM</i> gene. This gene encodes for the skeletal muscle isoform of glycogen phosphorylase (myophosphorylase), the first enzyme in glycogenolysis. Patients with this disorder are unable to obtain energy...

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Bibliographic Details
Main Authors: María del Carmen Ortuño-Costela, Victoria Cerrada, Ana Moreno-Izquierdo, Inés García-Consuegra, Camille Laberthonnière, Mégane Delourme, Rafael Garesse, Joaquín Arenas, Carla Fuster García, Gema García García, José María Millán, Frédérique Magdinier, María Esther Gallardo
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:International Journal of Molecular Sciences
Subjects:
iPSCs
McArdle disease
<i>PYGM</i>
disease modelling
skeletal muscle differentiation
gene editing
Online Access:https://www.mdpi.com/1422-0067/23/22/13964

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