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

• Published in: Stem cell research Vol. 78; p. 103443
• Main Authors: Ren, Lu, Jahng, James W.S., Belbachir, Nadjet, Cook, Zachary, Rivero, Gabriela C., Perez, Marco V., Wu, Joseph C.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2024; Elsevier
• Subjects: Cell Differentiation; Cell Line; Female; Heterozygote; Human induced pluripotent stem cell (iPSC); Humans; Induced Pluripotent Stem Cells - metabolism; KCNQ1; KCNQ1 Potassium Channel - genetics; KCNQ1 Potassium Channel - metabolism; Long QT Syndrome (LQTS); Long QT Syndrome - genetics; Long QT Syndrome - metabolism; Long QT Syndrome - pathology; Male; Mutation; Human induced pluripotent stem cell (iPSC); Long QT Syndrome (LQTS); KCNQ1
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2024.103443

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.