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


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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zeng W, Kong X, Alamana C, Liu Y, Guzman J, Pang PD, Day JW, Wu JC
Journal Stem cell research
Publication Date 2023 Jun;69:103095
PubMed 37087898
PubMed Central PMC11068589
DOI 10.1016/j.scr.2023.103095

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