Putra, Manesha, Bettina F Cuneo, Congwu Chi, Zhen Zhang, Linnea Prudell, and Kunhua Song. 2025. “Generation of Human Induced Pluripotent Stem Cell Lines from a Fetus With Congenital Long QT Syndrome and Her Healthy Parents.”. Stem Cell Research 89: 103848.
Abstract
Long QT syndrome (LQTS) is a channelopathy that predisposes affected individuals to ventricular arrhythmias and cardiac arrest. Here, a human induced pluripotent stem cell (hiPSC) line was generated from amniotic fluid cells (AFCs) of a 32-week fetus diagnosed with LQTS. Additionally, two iPSC lines were generated from peripheral blood mononuclear cells (PBMCs) of the fetus's healthy biological parents. Genome sequencing revealed that the fetus with LQTS carried a de novo KCNH2 variant, c.1898A > G (p.Asn633Ser). All three iPSC lines demonstrated normal morphology, karyotyping, and pluripotency. These iPSC lines provide a valuable in vitro model for LQTS caused by KCNH2 mutations.