Ontology highlight
ABSTRACT:
SUBMITTER: Ferrari G
PROVIDER: S-EPMC7057262 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Ferrari Giulia G Muntoni Francesco F Tedesco Francesco Saverio FS
Stem cell research 20200201
Duchenne muscular dystrophy (DMD) is the most common paediatric muscular dystrophy and is caused by mutations in the DYSTROPHIN gene. We generated two induced pluripotent stem cell (iPSC) lines from DMD patients with nonsense mutations in exons 68 (UCLi011-A) or 70 (UCLi012-A) by transfecting reprogramming mRNAs. Both mutations affect expression of all dystrophin isoforms. iPSCs expressed pluripotency-associated markers, differentiated into cells of the three germ layers in vitro and had normal ...[more]