Open AccessA Novel Protocol for Directed Differentiation of C9orf72‐Associated Human Induced Pluripotent Stem Cells Into Contractile Skeletal Myotubes
Author(s) -
Swartz Elliot W.,
Baek Jaeyun,
Pribadi Mochtar,
Wojta Kevin J.,
Almeida Sandra,
Karydas Anna,
Gao Fen-Biao,
Miller Bruce L.,
Coppola Giovanni
Publication year - 2016
Publication title -
stem cells translational medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.781
H-Index - 71
eISSN - 2157-6580
pISSN - 2157-6564
DOI - 10.5966/sctm.2015-0340
Subject(s) - induced pluripotent stem cell , myogenesis , skeletal muscle , biology , microbiology and biotechnology , cellular differentiation , c9orf72 , stem cell , myocyte , cancer research , genetics , anatomy , trinucleotide repeat expansion , embryonic stem cell , allele , gene
In the present study, functional skeletal myotubes were efficiently generated from human induced pluripotent stem cells using a small molecule‐based approach. Myotubes derived from patients carrying the C9orf72 repeat expansion show no change in differentiation efficiency and normal TDP‐43 localization after as many as 120 days in vitro when compared to unaffected controls. The protocol described in this study for the generation of skeletal myotubes from human induced pluripotent stem cells may serve as a valuable tool in drug discovery and modeling of musculoskeletal and neuromuscular diseases.