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Generation of gene-corrected human isogenic iPSC lines from hypertrophic cardiomyopathy patients harboring PRKAG2 mutation (c.2084A>G, p.His530Arg) using prime editing

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dc.contributor.authorLu, Zijun
dc.contributor.authorQiu, Zhichao
dc.contributor.authorZhang, Yao
dc.contributor.authorYang, Hao
dc.contributor.authorYang, Yuan
dc.contributor.authorLiang, Zhuobin
dc.contributor.authorZhang, Joe Z.
dc.date.accessioned2026-06-30T14:44:13Z
dc.date.available2026-06-30T14:44:13Z
dc.date.issued2026-05-01
dc.date.updated2026-06-02T08:13:29Z
dc.description.abstractPRKAG2 cardiac syndrome is a rare inherited cardiomyopathy characterized by clinical manifestations such as abnormal cardiac hypertrophy, glycogen storage, and arrhythmias. We derived two human induced pluripotent stem cell (iPSC) lines carrying a heterozygous PRKAG2 missense mutation (c.2084A>G, p.His530Arg) from two patients with hypertrophic cardiomyopathy. Using Prime Editing, we precisely corrected this mutation in patient-specific iPSCs. This approach enables a valuable resource for advancing precision medicine research in PRKAG2 cardiac syndrome.
dc.format.extent5 p.
dc.format.mimetypeapplication/pdf
dc.identifier.issn1876-7753
dc.identifier.pmid42096740
dc.identifier.urihttps://hdl.handle.net/2445/230314
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.1016/j.scr.2026.104008
dc.relation.ispartofStem Cell Research, 2026, vol. 94, p. 104008
dc.relation.urihttps://doi.org/10.1016/j.scr.2026.104008
dc.rightscc by-nc-nd (c) Lu, Zijun et al., 2026
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceArticles publicats en revistes (Patologia i Terapèutica Experimental)
dc.subject.classificationMalalties del cor
dc.subject.classificationGenètica molecular humana
dc.subject.otherHeart diseases
dc.subject.otherHuman molecular genetics
dc.titleGeneration of gene-corrected human isogenic iPSC lines from hypertrophic cardiomyopathy patients harboring PRKAG2 mutation (c.2084A>G, p.His530Arg) using prime editing
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion

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