Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy

Song Su; Ying Ren; Hongwei Zhang; Yi Liu; Yong Liu; Zilong Li; Tong Zhang; Fang Fang

Stem Cell Research (Dec 2024)

Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy

Song Su,
Ying Ren,
Hongwei Zhang,
Yi Liu,
Yong Liu,
Zilong Li,
Tong Zhang,
Fang Fang

Affiliations

Song Su: Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children’s Hospital, Jinan, Shandong 250022, China
Ying Ren: Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children’s Hospital, Jinan, Shandong 250022, China
Hongwei Zhang: Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children’s Hospital, Jinan, Shandong 250022, China
Yi Liu: Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children’s Hospital, Jinan, Shandong 250022, China
Yong Liu: Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children’s Hospital, Jinan, Shandong 250022, China
Zilong Li: Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children’s Hospital, Jinan, Shandong 250022, China
Tong Zhang: Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children’s Hospital, Jinan, Shandong 250022, China
Fang Fang: Department of Neurology, Beijing Children’s Hospital, National Center for Children’s Health, Capital Medical University, Beijing 100045, China; Corresponding author.

Journal volume & issue: Vol. 81
p. 103574

Abstract

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Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, normal karyotype, and potential to differentiate into three germ layers. Our approach offers a useful model to explore pathogenesis and therapy of Epilepsy.

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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