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
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.
Authors
- Athanasia D. Panopoulos (ORCID: https://orcid.org/0000-0002-9610-2604)
- Reyna Hernández‐Benítez (ORCID: https://orcid.org/0000-0003-2546-8956)
- Kai Fang (ORCID: https://orcid.org/0000-0002-5936-5771)
- A. McCarron
- Nayara Sousa da Silva (ORCID: https://orcid.org/0000-0002-3864-4106)
- Esra Karaca (ORCID: https://orcid.org/0000-0003-1777-3977)
- Kelly A. Frazer (ORCID: https://orcid.org/0000-0002-6060-8902)
- Agnieszka D’Antonio‐Chronowska (ORCID: https://orcid.org/0000-0003-1653-4106)
- Keiichiro Suzuki (ORCID: https://orcid.org/0000-0001-5603-9105)
- Juan Carlos Izpisua Belmonte
Institutions
- Cedars-Sinai Medical Center (US)
- University of California San Diego (US)
- Altos Labs
- The University of Osaka (JP)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-06-18
- DOI
- https://doi.org/10.1016/j.scr.2025.103755
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- California Institute for Regenerative Medicine
- National Heart, Lung, and Blood Institute
- National Human Genome Research Institute