Evidence map›Paper›PMID 38763038›Full record

ArticleStem cell research2024

Generation of induced pluripotent stem cell lines from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene.

Lu Ren, James W S Jahng, Nadjet Belbachir, Zachary Cook, Gabriela C Rivero, Marco V Perez, Joseph C Wu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Lu RenStanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA.
James W S JahngStanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA.
Nadjet BelbachirStanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA.
Zachary CookGreenstone Biosciences, Palo Alto, CA 94304, USA.
Gabriela C RiveroStanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA.
Marco V PerezStanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA.
Joseph C WuStanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA. Electronic address: joewu@stanford.edu.

Funding

Modeling Tyrosine Kinase Inhibitor-Induced Vascular Dysfunction Using Human iPSCsR01HL141851 · NHLBI · STANFORD UNIVERSITY · PI WONG, WING H., WU, JOSEPH C. · 2018 to 2025
$5.7M
Single Cell Sequencing of Human iPSC-CM Subtype Identity and FunctionR01HL145676 · NHLBI · STANFORD UNIVERSITY · PI MARK MERCOLA, Joseph C. Wu · 2019 to 2026
$5.1M
Elucidating Anthracycline-Induced Cell Type-Specific Cardiovascular Toxicity with CRISPRi/a ScreensR01HL150693 · NHLBI · STANFORD UNIVERSITY · PI Ronglih Liao, Joseph C. Wu · 2021 to 2026
$4.1M
Modeling Susceptibility to Radiation Therapy-induced Cardiotoxicity Using Cell Village iPSCsR01HL171102 · NHLBI · STANFORD UNIVERSITY · PI MARK MERCOLA, Joseph C. Wu · 2024 to 2026
$2.1M
Unraveling the Role of p53 in Endothelium Homeostasis after Ionizing Radiation ExposureK99HL173685 · NHLBI · STANFORD UNIVERSITY · PI JAHNG, WON SUK · 2024 to 2025
$300k
NHLBI NIH HHS K99 HL173685NHLBI NIH HHS R01 HL141851NHLBI NIH HHS R01 HL145676NHLBI NIH HHS R01 HL150693NHLBI NIH HHS R01 HL171102
6 · The paper itself

Abstract

Long QT Syndrome (LQTS) is a genetic heart disorder that can induce cardiac arrhythmias. The most prevalent subtype, LQT1, stems from rare variants in the KCNQ1 gene. Utilizing induced pluripotent stem cells (iPSCs) enables detailed cellular studies and personalized medicine approaches for this life-threatening condition. We generated two LQT1 iPSC lines with single nucleotide nonsense mutations, c.1031 C > T and c.1121 T > A in KCNQ1. Both lines exhibited typical iPSC morphology, expressed high levels of pluripotent markers, maintained normal karyotype, and possessed the capability to differentiate into three germ layers. These cell lines serve as important tools for investigating the biological mechanisms underlying LQT1 due to mutations in the KCNQ1 gene.

Indexed as

Induced Pluripotent Stem CellsKCNQ1 Potassium ChannelLong QT SyndromeCell DifferentiationCell LineFemaleHeterozygoteHumansMaleMutationKCNQ1 Potassium ChannelKCNQ1 protein, humanHuman induced pluripotent stem cell (iPSC)KCNQ1Long QT Syndrome (LQTS)

Identifiers

PMID38763038
PMCPMC11365511

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.