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Author

Haley M. Fernandez

2 papers indexed here

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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. · 0 citations
Open access Sep 2026

Generation of two induced pluripotent stem cell lines from hereditary hemorrhagic telangiectasia patients harboring ACVRL1 mutations.

Two patient-derived induced pluripotent stem cell lines generated from clinically diagnosed HHT donors carrying heterozygous ACVRL1 mutations show expected iPSC morphology, robust expression of markers of the undifferentiated iPSC state, genomic stability by LP-WGS, and tri-lineage differentiation capacity.

Mey-Sam Chörsi, Haley M. Fernandez, Ren-Ke Tan et al. · 0 citations

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