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
Summary
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. Copyright © 2025. Published by Elsevier B.V.
| Authors | Silva NSD, D'Antonio-Chronowska A, Hernandez-Benitez R, McCarron AR, Karaca E, Fang K, Izpisua Belmonte JC, Panopoulos AD, Suzuki K, Frazer KA |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Sep;87:103755 |
| PubMed | 40561734 |
| PubMed Central | PMC13222054 |
| DOI | 10.1016/j.scr.2025.103755 |