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Updated: Sep 20, 2026

Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells
Published on: January 28, 2015
Generation of two human induced pluripotent stem cell lines from patients with hypokalemic periodic paralysis
Haley M Fernandez1, James W Jahng1, Dong Li1
1Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Abstract:
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder caused by a p.Arg528His mutation in the CACNA1S gene, which encodes the α1-subunit of the skeletal muscle L-type calcium channel. The mutation causes leaky ion flow and impairs muscle excitation-contraction coupling. Patients exhibit episodic paralysis, muscle attacks, and hypokalemia. Two human induced pluripotent stem cell (iPSC) lines were generated from HypoPP patients, SCVIi152-A and SCVIi153-A, each carrying the CACNA1S c.1583G>A (p.Arg528His) mutation. Both lines exhibited pluripotency marker expression at gene and protein levels, displayed a normal karyotype, and differentiated into all three germ layers in vitro. These lines are valuable resources for modeling HypoPP.
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