Evidence map›Paper›PMID 40561734›Full record

ArticleStem cell research2025

Generation of a set of genetically modified long QT syndrome induced pluripotent stem cell lines carrying knock-in variants rs120074178 (KCNQ1 c.569G > A; p.Arg190Gln) and rs137854600 (SCN5A c.4865G > A; p.Arg1622Gln) and isogenic control lines.

Nayara Sousa da Silva, Agnieszka D'Antonio-Chronowska, Reyna Hernandez-Benitez, Angelina Rose McCarron, Esra Karaca, Kai Fang, Juan Carlos Izpisua Belmonte, Athanasia D Panopoulos, Keiichiro Suzuki, Kelly A Frazer

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Nayara Sousa da SilvaUniversity of California, San Diego, Institute for Genomic Medicine, La Jolla, CA, USA.
Agnieszka D'Antonio-ChronowskaUniversity of California, San Diego, Department of Pediatrics, La Jolla, CA, USA.
Reyna Hernandez-BenitezAltos Labs, Inc., San Diego, CA, USA.
Angelina Rose McCarronUniversity of California, San Diego, Institute for Genomic Medicine, La Jolla, CA, USA.
Esra KaracaBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Kai FangBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Juan Carlos Izpisua BelmonteAltos Labs, Inc., San Diego, CA, USA.
Athanasia D PanopoulosBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA; Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Keiichiro SuzukiInstitute for Advanced Co-Creation Studies, Osaka University, Toyonaka, Osaka, Japan; Graduate School of Engineering Science, Osaka University, Toyonaka, Osaka, Japan; Graduate School of Frontier Bioscience, Osaka University, Suita, Osaka, Japan.
Kelly A FrazerUniversity of California, San Diego, Institute for Genomic Medicine, La Jolla, CA, USA; University of California, San Diego, Department of Pediatrics, La Jolla, CA, USA. Electronic address: kafrazer@health.ucsd.edu.

Funding

REGULATORY GENOMIC STUDIES IN A COHORT OF IPS CELL DERIVED CARDIOMYOCYTESU01HL107442 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI EVANS, SYLVIA M, FRAZER, KELLY A · 2011 to 2016
$9.8M
NHLBI NIH HHS U01 HL107442
6 · The paper itself

Abstract

Long QT syndrome (LQTS) is an inherited channelopathy characterized by life-threatening arrhythmias. LQTS has many subtypes defined by the gene that contains the mutation, including LQT1 (KCNQ1), LQT2 (KCNH2), and LQT3 (SCN5A). Here, we used CRISPR/Cas9 technology to generate five isogenic human induced pluripotent stem cell (iPSC) lines, one line harboring an LQT1 variant rs120074178 (KCNQ1 c.569G > A), two lines harboring an LQT3 variant rs137854600 (SCN5A c.4865G > A), and two derived control lines.

Indexed as

Induced Pluripotent Stem CellsKCNQ1 Potassium ChannelLong QT SyndromeNAV1.5 Voltage-Gated Sodium ChannelCell LineCRISPR-Cas SystemsGene Knock-In TechniquesHumansKCNQ1 Potassium ChannelKCNQ1 protein, humanNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, human

Identifiers

PMID40561734
PMCPMC13222054

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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.