Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar
Kerstin Filippi1, Martin Wiemann1, Stefan Rupp2
1Institute of Physiology I, University of Bonn, Medical Faculty, Bonn, Germany.
Abstract:
As member of the chaperone-assisted selective autophagy (CASA) complex, BAG3 is important for the turnover of muscle proteins. Patients with a point mutation at position 626 in the BAG3 gene (p.P209L, c.626C>T, Chr.10q26) suffer from polyneuropathy and severe myofibrillar myopathy-6 (MFM6). The latter manifests as skeletal muscle dystrophy and restrictive cardiomyopathy. To model MFM6, we generated two non-isogenic human induced pluripotent stem cell (iPSC) lines from patients with this variant. Pluripotency analyses and germ layer differentiations were performed to check the iPSC quality. These hiPSCs enable the characterization of the pathophysiology of MFM6 and testing of new experimental therapeutic approaches.
More Related Videos
10:28Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
Published on: April 3, 2021
07:33Conversion of Human Induced Pluripotent Stem Cells iPSCs into Functional Spinal and Cranial Motor Neurons Using PiggyBac Vectors
Published on: May 1, 2019
Related Concept Videos
iPS Cell Differentiation
Induced Pluripotent Stem Cells
Somatic...
EPS and iPS Cells in Disease Research
