Corrigendum: Phenotypic variability in iPSC-induced cardiomyocytes and cardiac fibroblasts carrying diverse mutations.

[This corrects the article DOI: 10.3389/fphys.2021.

Lack of xanthine dehydrogenase leads to a remarkable renal decline in a novel hypouricemic rat model.

Uric acid (UA) is the final metabolite in purine catabolism in humans. Previous studies have shown that the dysregulation of UA homeostasis is detrimental to cardiovascular and kidney health. The gene encodes for the Xanthine Oxidoreductase enzyme group, responsible for producing UA.

Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse Mutations.

Mutations in the gene (encoding lamin A/C) are a significant cause of familial arrhythmogenic cardiomyopathy. Although the penetrance is high, there is considerable phenotypic variability in disease onset, rate of progression, arrhythmias, and severity of myopathy. To begin to address whether this variability stems from specific mutation sites and types, we generated seven patient-specific induced pluripotent stem cell (iPSC) lines with various mutations.

The dynamin-related protein 1 is decreased and the mitochondrial network is altered in Friedreich's ataxia cardiomyopathy.

Friedreich ataxia is an autosomal recessive congenital neurodegenerative disease caused by a deficiency in the frataxin protein and is often diagnosed in young adulthood. An expansion of guanine-adenine-adenine repeats in the first intron of the FXN gene leads to decreased frataxin expression. Frataxin plays an essential role in mitochondrial metabolism.

Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy.

Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in different genes including TTN, MYH7, and LMNA, have been linked to the development of DCM. Here, we generated a human induced pluripotent stem cell (IPSC) line from a DCM patient with a familial history that carries a frameshift mutation in Filamin C (FLNC).

Establishment of an arrhythmogenic right ventricular cardiomyopathy derived iPSC cell line (USFi004-A) carrying a heterozygous mutation in PKP2 (c.1799delA).

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being desmosomal genes like Plakophilin-2 (PKP2). Here, we generated an iPSC cell line bearing a pathogenic heterozygous mutation in PKP2 (c.

Generation of a Friedreich's Ataxia patient-derived iPSC line USFi001-A.

Friedreich's Ataxia (FA) is an autosomal recessive disorder with an incidence of 1 in 50,000 in Caucasians. Most cases are caused by a biallelic GAA expansion in the first intron of the Frataxin (FXN) gene. FA is a neurodegenerative disease, but the leading cause of death is hypertrophic cardiomyopathy (HCM) that develops in 60% of the patients.

Generation of an iPSC cell line (USFi003-A) from a patient with dilated cardiomyopathy carrying a heterozygous mutation in LMNA (p.R541C).

Mutations in the gene that encodes the nuclear envelope proteins lamin A/C (LMNA) are considered to be a prominent cause of Dilated cardiomyopathy (DCM), a leading cause of heart failure and a prevalent indication for heart transplant. Here we described the generation of induced pluripotent stem cells (iPSCs) from a 53-year-old female with DCM plus progressive conduction disease who carry a heterozygous mutation in LMNA (c.1621C > T, p.