Generation and characterization of an induced pluripotent stem cell line (ZSYYDNi001-A) from a patient with Duchenne muscular dystrophy carrying exon 51 deletion in the DMD gene

Liang Wang; Huan Li; Yaqin Li; Min Xu; Jinfu Lin; Ziyu Liao; Zhong Pei; Cheng Zhang

doi:10.1016/j.scr.2021.102553

Generation and characterization of an induced pluripotent stem cell line (ZSYYDNi001-A) from a patient with Duchenne muscular dystrophy carrying exon 51 deletion in the DMD gene

Stem Cell Res. 2021 Oct:56:102553. doi: 10.1016/j.scr.2021.102553. Epub 2021 Sep 30.

Authors

Liang Wang¹, Huan Li¹, Yaqin Li², Min Xu³, Jinfu Lin¹, Ziyu Liao¹, Zhong Pei⁴, Cheng Zhang⁵

Affiliations

¹ Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou 510080, China.
² Department of Neurology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen 518107, China.
³ Department of Dermatology, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.
⁴ Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou 510080, China. Electronic address: peizhong@mail.sysu.edu.cn.
⁵ Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou 510080, China. Electronic address: zhangch6@mail.sysu.edu.cn.

PMID: 34619646
DOI: 10.1016/j.scr.2021.102553

Abstract

Duchenne muscular dystrophy (DMD) is a common hereditary neuromuscular disease characterized by progressive muscle wasting and weakness. DMD is caused by mutations in the DMD gene, resulting in the dysfunction of dystrophin. We generated an induced pluripotent stem cell (iPSC) from a patient with DMD carrying exon 51 deletion in the DMD gene. This iPSC line can serve as a model for studying the pathogenesis and therapeutics of DMD.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Dystrophin / genetics
Exons / genetics
Humans
Induced Pluripotent Stem Cells*
Muscular Dystrophy, Duchenne* / genetics
Mutation

Substances

Dystrophin