Joseph C. Wu

New approach methodologies: drug screening platform to identify antifibrotic compounds.

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...

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.

Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations

Fabry disease is a rare genetic disease caused by loss-of-function in the GLA gene. This gene encodes the lysosomal enzyme α-galactosidase A (α-Gal A). A deficiency of α-Gal A results in the globotriaosylceramide buildup throughout the major organs, which is associated with increased mortality from cardiac disease in p...

Generation of two induced pluripotent stem cell lines from Marfan syndrome patients carrying FBN1 mutations

Induced pluripotent stem cell lines derived from two Marfan syndrome patients with mutations in the FBN1 gene exhibited typical iPSC morphology, normal karyotype, undifferentiated states, and trilineage differentiation capacity.

Generation of two iPSC lines from ALS patients harboring C9orf72 hexanucleotide repeat expansions

This work describes the successful reprogramming of two human induced pluripotent stem cell (iPSC) lines originating from two independent ALS patients, both of whom carry a C9orf72 HRE mutation.

Clinical landscape of human pluripotent stem cell-derived cardiomyocyte therapy.

The pathophysiological rationale for cell-based therapy in heart failure with reduced ejection fraction is summarized, and the preclinical foundations of distinct hPSC-derived product formats are examined, including cell suspensions, epicardial sheets, engineered heart muscle, and cardiac spheroids, each with distinct...