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Article

Generation of an arrhythmogenic right ventricular cardiomyopathy-patient-derived iPS cell line with PKP2 and AKAP9 mutation (MUNIi022-A).

Stem cell research - 1 Sept 2026

Beckerová Deborah, Polachova Anezka, Komorníková Petra, Pesl Martin, Makaturová Eva, Robešová Blanka, Jankovičová Tamara, Kadlecová Jitka, Poloczkova Hana, Rotrekl Vladimir

Abstract excerpt

We have established an iPSC cell line carrying mutations in Plakophillin 2 (PKP2) and the A-kinase anchor protein 9 (AKAP9). Plakophilin 2 is an important protein of desmosomes, facilitating cell attachment and tissue strength. Its absence/mutation is associated with impaired cell adhesion and intracellular processes including calcium cycling and actin rearrangement. AKAP9, together with potassium channels and...

Read the complete abstract on PubMed

Topics

Humans
Mutation
Plakophilins
A Kinase Anchor Proteins
Arrhythmogenic Right Ventricular Dysplasia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Induced Pluripotent Stem Cells

Cell Line

Cytoskeletal Proteins

Source

Identifiers

PMID: 42398419
DOI: 10.1016/j.scr.2026.104054

Genes

AKAP9
PKP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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