Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102429
Abstract: To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous p.Gly148Asp mutation in exon 3 of the ACTA1 gene to iPSCs. Using… read more here.
Keywords: generating ipsc; control; nemaline myopathy; isogenic control ... See more keywords
Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.
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DOI: 10.1016/j.scr.2021.102489
Abstract: MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy.… read more here.
Keywords: allelic mybpc3; hypertrophic cardiomyopathy; mybpc3; isogenic control ... See more keywords
PITX2 Knockout Induces Key Findings of Electrical Remodeling as Seen in Persistent Atrial Fibrillation
Sign Up to like & getrecommendations! Published in 2023 at "Circulation: Arrhythmia and Electrophysiology"
DOI: 10.1161/circep.122.011602
Abstract: Background: Electrical remodeling in human persistent atrial fibrillation is believed to result from rapid electrical activation of the atria, but underlying genetic causes may contribute. Indeed, common gene variants in an enhancer region close to… read more here.
Keywords: pitx2; isogenic control; electrical remodeling; atrial fibrillation ... See more keywords