Generation and characterization of an induced pluripotent stem cell line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy carrying c.4518 + 512 T > A variant in the DMD gene

Ming Jin; Danni Wang; Guoling Li; Jiajia Lin; Xiang Lin; Ning Wang

Stem Cell Research (Apr 2022)

Generation and characterization of an induced pluripotent stem cell line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy carrying c.4518 + 512 T > A variant in the DMD gene

Ming Jin,
Danni Wang,
Guoling Li,
Jiajia Lin,
Xiang Lin,
Ning Wang

Affiliations

Ming Jin: Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Danni Wang: Department of Neurology, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China
Guoling Li: Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai Research Center for Brain Science and Brain-Inspired Intelligence, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China
Jiajia Lin: Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Xiang Lin: Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Ning Wang: Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China; Corresponding author.

Journal volume & issue: Vol. 60
p. 102718

Abstract

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Duchenne muscular dystrophy (DMD) is an X-linked recessive degenerative disease characterized by progressive weakness of limbs. In this study, we generated an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts with non-integrating Sendai virus. The patient carried a rare c.4518 + 512 T > A variant in the DMD gene. This iPSC line displayed normal iPSC morphology, karyotypes and pluripotency expression markers, and also can be differentiated into the three germ layers.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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