Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.

The EMBO journal - 11 Dec 2013

Bellin Milena, Casini Simona, Davis Richard P, D'Aniello Cristina, Haas Jessica, Ward-van Oostwaard Dorien, Tertoolen Leon G J, Jung Christian B, Elliott David A, Welling Andrea, Laugwitz Karl-Ludwig, Moretti Alessandra, Mummery Christine L

Abstract excerpt

Patient-specific induced pluripotent stem cells (iPSCs) will assist research on genetic cardiac maladies if the disease phenotype is recapitulated in vitro. However, genetic background variations may confound disease traits, especially for disorders with incomplete penetrance, such as long-QT syndromes (LQTS). To study the LQT2-associated c.A2987T (N996I) KCNH2 mutation under genetically defined conditions, we...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Action Potentials
Share to Embryonic Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ERG1 Potassium Channel

Share to Ether-A-Go-Go Potassium Channels

Share to Homeobox Protein Nkx-2.5

Share to Long QT Syndrome

Share to Myocytes, Cardiac

Share to Pluripotent Stem Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 24213244
DOI: 10.1038/emboj.2013.240
PMCID: PMC3981141

Genes

KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.PMID 24213244Read ↗

Modeling mutation-specific arrhythmogenic phenotypes in isogenic human iPSC-derived cardiac tissues.Semantic proximity Read ↗

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell cultureSemantic proximity Read ↗

Modelling the long QT syndrome with induced pluripotent stem cells.Semantic proximity Read ↗

Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.Semantic proximity Read ↗

R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.Semantic proximity Read ↗

Generation of patient-specific induced pluripotent stem cell lines with Type 2 Long QT Syndrome and the KCNH2 c.379C > T pathogenic variant.Semantic proximity Read ↗

Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT SyndromeSemantic proximity Read ↗

Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical ApplicationsSemantic proximity Read ↗

Isogenic sets of hiPSC-CMs harboring <i>KCNH2</i> mutations capture location-related phenotypic differencesSemantic proximity Read ↗

Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant.Semantic proximity Read ↗

The generation of induced pluripotent stem cells from a patient with KCNH2 G603D, without LQT2 disease associated symptom.Semantic proximity Read ↗

hERG-deficient human embryonic stem cell-derived cardiomyocytes for modelling QT prolongationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.