Skip to content
DraconiticResearch
Search Sources API
203,234 studies31 sourcesUpdated 45 min ago
Peer-reviewedCC BY-NC-ND 4.0Stem cell research

Generation of two human induced pluripotent stem cell lines from patients with hypokalemic periodic paralysis

  • Haley M. Fernandez1,2
  • James W. Jahng1,2
  • Dong Li1,2
  • Yang Zhou3
  • Joseph C. Wu1,2,3
  1. 1Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA
  2. 2Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
  3. 3Greenstone Biosciences, Palo Alto, CA 94304, USA
Read full textPDFDOICite

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.

Related

  1. Generation of four human induced pluripotent stem cell lines derived from patients with corticosteroid-associated central serous chorioretinopathy
    Sekar Galuh, Karine Raymond, Joost Brinks +4
    Stem Cell ResearchPeer-reviewedCC BYMolecular biology & gene regulationHAL
  2. Generation and characterization of three human induced pluripotent stem cell lines from patients with Duchenne muscular dystrophy
    Hamel Mahiou, Benjamin Marande, Lina El Kassar +15
    Stem Cell ResearchPeer-reviewedCC BY 4.0Full textMolecular biology & gene regulationHAL
  3. Periodic paralysis and voltage-gated ion channels
    Bertrand Fontaine, Pascale Lapie, Emmanuelle Plassart +4
    Kidney InternationalPeer-reviewedLicence not stated67 citedMolecular biology & gene regulationHAL
  4. Generation of functional adipoids from human induced pluripotent stem cells
    L. C. Hinte, R. Okamoto, S. Jansen +4
    bioRxivPreprintCC BY-NC-NDFull textMolecular biology & gene regulationbioRxiv
  5. Generation of hypoimmunogenic cardiomyocytes from human induced pluripotent stem cells with TAPBP knockout
    Yuki Yamamoto, Rei Ohno, Kayoko Shoda +13
    iSciencePeer-reviewedCC BY 4.0Full textMolecular biology & gene regulationCell biologyCell PressCrossrefEurope PMC

Cite

BibTeXRIS
BibTeX
@article{fernandez2026generation,
  title = {{Generation of two human induced pluripotent stem cell lines from patients with hypokalemic periodic paralysis}},
  author = {Haley M. Fernandez and James W. Jahng and Dong Li and Yang Zhou and Joseph C. Wu},
  journal = {Stem cell research},
  year = {2026},
  month = sep,
  doi = {10.1016/j.scr.2026.104106},
  url = {https://doi.org/10.1016/j.scr.2026.104106},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Generation of two human induced pluripotent stem cell lines from patients with hypokalemic periodic paralysis
AU  - Haley M. Fernandez
AU  - James W. Jahng
AU  - Dong Li
AU  - Yang Zhou
AU  - Joseph C. Wu
PY  - 2026
DA  - 2026/09/17
JO  - Stem cell research
DO  - 10.1016/j.scr.2026.104106
UR  - https://doi.org/10.1016/j.scr.2026.104106
AB  - 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.
SN  - 1873-5061
SN  - 1876-7753
ER  -