Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.

doi:10.15252/emmm.202013074

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Article

Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.

EMBO molecular medicine - 7 Jun 2021

Cuello Friederike, Knaust Anika E, Saleem Umber, Loos Malte, Raabe Janice, Mosqueira Diogo, Laufer Sandra, Schweizer Michaela, van der Kraak Petra, Flenner Frederik, Ulmer Bärbel M, Braren Ingke, Yin Xiaoke, Theofilatos Konstantinos, Ruiz-Orera Jorge, Patone Giannino, Klampe Birgit, Schulze Thomas, Piasecki Angelika, Pinto Yigal, Vink Aryan, Hübner Norbert, Harding Sian, Mayr Manuel, Denning Chris, Eschenhagen Thomas, Hansen Arne

Abstract excerpt

The phospholamban (PLN) p.Arg14del mutation causes dilated cardiomyopathy, with the molecular disease mechanisms incompletely understood. Patient dermal fibroblasts were reprogrammed to hiPSC, isogenic controls were established by CRISPR/Cas9, and cardiomyocytes were differentiated. Mutant cardiomyocytes revealed significantly prolonged Ca2+ transient decay time, Ca2+ -load dependent irregular beating pattern,...

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Identifiers

PMID: 33998164
DOI: 10.15252/emmm.202013074
PMCID: PMC8185541

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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