Open AccessA Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy‐Affected Skeletal Muscles
Author(s) -
Caron Leslie,
Kher Devaki,
Lee Kian Leong,
McKernan Robert,
Dumevska Biljana,
Hidalgo Alejandro,
Li Jia,
Yang Henry,
Main Heather,
Ferri Giulia,
Petek Lisa M.,
Poellinger Lorenz,
Miller Daniel G.,
Gabellini Davide,
Schmidt Uli
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.2015-0224
Subject(s) - facioscapulohumeral muscular dystrophy , induced pluripotent stem cell , myogenesis , muscular dystrophy , embryonic stem cell , skeletal muscle , biology , stem cell , microbiology and biotechnology , myocyte , bioinformatics , medicine , genetics , anatomy , gene
This work describes a monolayer system to differentiate human pluripotent stem cells (hPSCs) into skeletal muscle cells (SkMCs) and demonstrates disease‐specific phenotypes in SkMCs derived from hPSCs affected with facioscapulohumeral muscular dystrophy. This is the first human stem cell‐based cellular model for a muscular dystrophy suitable for high‐throughput screening and drug development.