Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene

Duchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49–50 exons del...

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Bibliographic Details
Main Authors: Jingyun Guan, Xinnong Liu, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Zhongtao Gai, Yi Liu
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350611930296X
Description
Summary:Duchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49–50 exons deletion in DMD gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSCs line (SDQLCHi007-A) carrying the identical deletion of 49–50 exons, expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers. Keywords: DMD gene, iPSCs, PBMC
ISSN:1873-5061