Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene

Wenshu Zeng; Xiaohui Kong; Christina Alamana; Yu Liu; Jessica Guzman; Paul D. Pang; John W. Day; Joseph C. Wu

Stem Cell Research (Jun 2023)

Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene

Wenshu Zeng,
Xiaohui Kong,
Christina Alamana,
Yu Liu,
Jessica Guzman,
Paul D. Pang,
John W. Day,
Joseph C. Wu

Affiliations

Wenshu Zeng: Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA
Xiaohui Kong: Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA
Christina Alamana: Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA
Yu Liu: Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA
Jessica Guzman: Department of Neurology, Stanford University, Stanford, CA 94305, USA
Paul D. Pang: Greenstone Biosciences, Palo Alto, CA 94304, USA
John W. Day: Department of Neurology, Stanford University, Stanford, CA 94305, USA
Joseph C. Wu: Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA; Greenstone Biosciences, Palo Alto, CA 94304, USA; Corresponding author at: 265 Campus Drive, G1120B, Stanford, CA 94305, USA.

Journal volume & issue: Vol. 69
p. 103095

Abstract

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Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA patients exhibit marked skeletal muscle (SKM) loss, eventually leading to death. Here we generated two iPSC lines from two SMA type I patients with homozygous SMN1 mutations and validated the pluripotency and the ability to differentiate into three germ layers. The iPSC lines can be applied to generate skeletal muscles to model muscle atrophy of SMA that persists after treatment of motor neurons and will serve as a complementary platform for drug screening in vitro.

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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Abstract

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