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NRXN1 copy number variation is a rare genetic factor commonly shared among autism spectrum disorder (ASD), schizophrenia, intellectual disability, epilepsy and developmental delay. Human induced pluripotent stem cells (iPSCs) are essential for disease modeling and drug discovery, but familial cases are particularly rare. We report here the derivation of familial iPSC lines from two controls and three ASD patients carrying NRXN1α, using a non-integrating Sendai viral kit. The genotype and karyotype of the resulting iPSCs were validated by whole genome SNP array. All iPSC lines expressed comparable levels of pluripotency markers and could be differentiated into three germ layers.
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http://dx.doi.org/10.1016/j.scr.2019.101653 | DOI Listing |
Mol Ther Methods Clin Dev
June 2025
Precision Safety, Pharma Product Development, Roche Innovation Center Basel, CH-4070 Basel, Switzerland.
Adeno-associated virus (AAV) vectors are widely used in gene therapy, particularly for liver-targeted treatments. However, predicting human-specific outcomes, such as transduction efficiency and hepatotoxicity, remains challenging. Reliable models are urgently needed to bridge the gap between preclinical studies and clinical applications.
View Article and Find Full Text PDFStem Cell Res
September 2025
Department of Cardiology, Affiliated Hospital of Jining Medical University, Shandong, China; Shandong Provincial Key Medical and Health Discipline of Cardiology Affiliated Hospital of Jining Medical University, Shandong, China; Key Laboratory of Cell and Biomedical Technology of Shandong Province, C
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary infiltrative cardiomyopathy characterized by fibrofatty replacement of the right ventricular myocardium, which may extend to the left ventricle in the advanced stages. Clinically, the condition is commonly associated with right ventricular dilation, malignant arrhythmias, and an increased risk of sudden cardiac death. In this study, we successfully established induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of ARVC patients carrying a heterozygous LMNA gene mutation (c.
View Article and Find Full Text PDFStem Cell Res
September 2025
Institute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; DZHK (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:
Cardiomyopathies, a leading cause of mortality, are associated with dysfunctional intercalated discs, which connect neighbouring cardiomyocytes and ensure proper contractility. In human cardiac diseases, loss-of-function mutations of the intercalated disc-associated protein Nebulin-Related Anchoring Protein (NRAP) have been reported. NRAP plays a crucial role in myofibril assembly and mechanotransduction, however, its regulatory functions remain unclear.
View Article and Find Full Text PDFJ Vis Exp
August 2025
Department of Oncology, Division of Pediatric Oncology and Institute for Cell Engineering, The Johns Hopkins University School of Medicine;
Human cord blood (CB) myeloid progenitor reprogramming to a high-fidelity human induced pluripotent stem cell (hiPSC) state can be achieved using non-integrating episomal vectors and stromal signals. These conventional, primed CB-hiPSC lines can subsequently be chemically reverted with high efficiencies to a blastomere-like Tankyrase/PARP Inhibitor-Regulated Naive Stem Cell (TIRN-SC) state with functional totipotency. PARP-regulated TIRN-SCs are human stem cells with high epigenetic plasticity, stable epigenomic imprints, and have greater differentiation potency than conventional, lineage-primed hiPSCs.
View Article and Find Full Text PDFCancer cachexia is a highly debilitating clinical syndrome of involuntary body mass loss featuring profound muscle wasting leading to high mortality. Notably, cardiac wasting is prominent in cancer patients and cancer survivors. Cachexia studies present significant challenges due to the absence of human models and mainly short-term animal studies.
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