Article
Concordant but Varied Phenotypes among Duchenne Muscular Dystrophy Patient-Specific Myoblasts Derived using a Human iPSC-Based Model.
Cell reports - 7 Jun 2016
Choi In Young, Lim HoTae, Estrellas Kenneth, Mula Jyothi, Cohen Tatiana V, Zhang Yuanfan, Donnelly Christopher J, Richard Jean-Philippe, Kim Yong Jun, Kim Hyesoo, Kazuki Yasuhiro, Oshimura Mitsuo, Li Hongmei Lisa, Hotta Akitsu, Rothstein Jeffrey, Maragakis Nicholas, Wagner Kathryn R, Lee Gabsang
Abstract excerpt
Duchenne muscular dystrophy (DMD) remains an intractable genetic disease. Althogh there are several animal models of DMD, there is no human cell model that carries patient-specific DYSTROPHIN mutations. Here, we present a human DMD model using human induced pluripotent stem cells (hiPSCs). Our model reveals concordant disease-related phenotypes with patient-dependent variation, which are partially reversed by...
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