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 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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Guan J, Liu X, Zhang H, Yang X, Ma Y, Li Y, Gai Z, Liu Y
Journal Stem cell research
Publication Date 2020 Jan;42:101666
PubMed 31812072
DOI 10.1016/j.scr.2019.101666

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