Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients

Caudal, Arianne; Mondéjar-Parreño, Gema; Vera, Carlos; Williams, Damon R.; Shenoy, Sushma; Liang, David; Wu, Joseph C.

doi:10.1016/j.scr.2022.102855

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Patient-derived Cellular Models Of Pln-r14del1

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2023

2024

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Cited by 3 publications

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“…Material and methods have been previously described ( Caudal et al, 2022 ). In detail we used the following approach.…”

Section: Methodsmentioning

confidence: 99%

Generation of two induced pluripotent stem cell lines from patients suffering from pulmonary hypertension

Chen,

Orozco,

Parmisano

et al. 2023

Stem Cell Research

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“…Material and methods have been previously described ( Caudal et al, 2022 ). In detail we used the following approach.…”

Section: Methodsmentioning

confidence: 99%

Generation of two induced pluripotent stem cell lines from patients suffering from pulmonary hypertension

Chen,

Orozco,

Parmisano

et al. 2023

Stem Cell Research

Self Cite

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“…In parallel to animal models, an increasing number of patient-derived induced pluripotent stem cell cardiomyocyte (iPSC-CM) lines have been created ( 66 – 71 ) ( Table 2 ). Initially, iPSC-CMs were generated from dermal fibroblasts from a female carrier of the original Greek PLN-R14del family ( 68 ).…”

Section: Patient-derived Cellular Models Of Pln-r14delmentioning

confidence: 99%

Phospholamban R14del disease: The past, the present and the future

Vafiadaki

Glijnis²,

Doevendans

et al. 2023

Front. Cardiovasc. Med.

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Arrhythmogenic cardiomyopathy affects significant number of patients worldwide and is characterized by life-threatening ventricular arrhythmias and sudden cardiac death. Mutations in multiple genes with diverse functions have been reported to date including phospholamban (PLN), a key regulator of sarcoplasmic reticulum (SR) Ca2+ homeostasis and cardiac contractility. The PLN-R14del variant in specific is recognized as the cause in an increasing number of patients worldwide, and extensive investigations have enabled rapid advances towards the delineation of PLN-R14del disease pathogenesis and discovery of an effective treatment. We provide a critical overview of current knowledge on PLN-R14del disease pathophysiology, including clinical, animal model, cellular and biochemical studies, as well as diverse therapeutic approaches that are being pursued. The milestones achieved in <20 years, since the discovery of the PLN R14del mutation (2006), serve as a paradigm of international scientific collaboration and patient involvement towards finding a cure.

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“… 118 , 119 Thus, new approaches to improve maturation strategies 120 , 121 and assessments, as well as robust protocols to generate specialized cells and complex tissues, will be critical. Furthermore, early-phase iPSC-based drug screening platforms will benefit from the accessibility to growing patient biobanks, 122 , 123 high-throughput functional pipelines, 124 reporting tools, 125 and small molecular libraries targeting key cardiovascular pathways.…”

Section: Introductionmentioning

confidence: 99%

Harnessing human genetics and stem cells for precision cardiovascular medicine

Caudal,

Snyder,

2024

Cell Genomics

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Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients

Cited by 3 publications

References 6 publications

Generation of two induced pluripotent stem cell lines from patients suffering from pulmonary hypertension

Generation of two induced pluripotent stem cell lines from patients suffering from pulmonary hypertension

Phospholamban R14del disease: The past, the present and the future

Harnessing human genetics and stem cells for precision cardiovascular medicine

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