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 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.
Authors
- Joseph C. Wu (ORCID: https://orcid.org/0000-0002-6068-8041)
- Haley Fernandez
- James W. Jahng
- Dong Li
- Yang Zhou
Institutions
- Cardiovascular Institute of the South (US)
- Stanford University (US)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-09-17
- DOI
- https://doi.org/10.1016/j.scr.2026.104106
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute on Aging
- National Heart, Lung, and Blood Institute
- National Center for Advancing Translational Sciences
- Division of Microbiology and Infectious Diseases, National Institute of Allergy and Infectious Diseases