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Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene.

Stem cell research - 1 Dec 2024

Bekhite Mohamed M, Hübner Sascha, Kretzschmar Tom, Backsch Claudia, Weise Anja, Klein Elisabeth, Bogoviku Juergen, Westphal Julian, Christian Schulze P

Abstract excerpt

One of the main signs we do not know enough about arrhythmogenic right ventricular dysplasia 9/cardiomyopathy (ARVCD9, OMIM #609040, autosomal dominant) is the lack of early markers and therapeutic alternatives. To better study disease pathways in vitro, we generated human induced pluripotent stem cell (hiPSC) lines from the father (UKJi006-A) and son (UKJi001-A), who both shared the same heterozygous mutation in...

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PMID: 39332132
DOI: 10.1016/j.scr.2024.103565

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Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene.PMID 39332132Read ↗

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

Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation.Semantic proximity Read ↗

Generation of CRISPR/Cas9 edited human induced pluripotent stem cell line carrying the heterozygous p.H695VfsX5 frameshift mutation in the exon 10 of the PKP2 gene.Semantic proximity Read ↗

Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line from the dermal fibroblasts of a patient with arrhythmogenic right ventricular cardiomyopathy carrying a PKP2/c.2489 + 1G > A mutation.Semantic proximity Read ↗

Generation of human induced pluripotent stem cell line EURACi006-A and its isogenic gene-corrected line EURACi006-A-1 from an arrhythmogenic cardiomyopathy patient carrying the c.1643delG PKP2 mutation.Semantic proximity Read ↗

Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.Semantic proximity Read ↗

Generation of iPSC line from patient with arrhythmogenic right ventricular cardiomyopathy carrying mutations in PKP2 gene.Semantic proximity Read ↗

Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation.Semantic proximity Read ↗

Establishment of induced pluripotent stem cell lines from a family of an ARVC patient receiving heart transplantation in infant age carrying compound heterozygous mutations in DSP gene.Semantic proximity Read ↗

CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM).Semantic proximity Read ↗

An induced pluripotent stem cell line (EHTJUi004-A) generated from a neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP causing Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD).Semantic proximity Read ↗

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