Open access
Sep 2026
Generation of two human induced pluripotent stem cell lines from patients with hypokalemic periodic paralysis.
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 par...
Haley M. Fernandez, James W. S. Jahng, Dong Li et al.
· Stem Cell Research · 0 citations