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

Autor:	Ren L; Stanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA., Jahng JWS; Stanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA., Belbachir N; Stanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA., Cook Z; Greenstone Biosciences, Palo Alto, CA 94304, USA., Rivero GC; Stanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA., Perez MV; Stanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA., Wu JC; Stanford Cardiovascular Institute, Stanford, CA 94305, USA; Depart of Medicine, Division of Cardiovascular Medicine, Stanford, CA 94305, USA. Electronic address: joewu@stanford.edu.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2024 Aug; Vol. 78, pp. 103443. Date of Electronic Publication: 2024 May 16.
DOI:	10.1016/j.scr.2024.103443
Abstrakt:	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. Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Joseph C. Wu reports financial support was provided by National Institutes of Health. Lu Ren reports financial support was provided by American Heart Association. Joseph C. Wu reports a relationship with Greenstone Biosciences Inc that includes co-founder and scientific advisory roles. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu