Reprogramming of a human induced pluripotent stem cell line (ZZUSAHi004-A) from a long QT syndrome patient with a heterozygous AKAP9 (c. 4021C > A) mutant
Summary
Long QT syndrome is one of the most common hereditary arrhythmias in clinic. Mutations in AKAP9 gene can lead to long QT syndrome type 11 (LQT11). In this study, a human induced pluripotent stem cell line ZZUSAHi004-A from a 3-year-old male patient with long QT syndrome carrying a heterozygous mutation in AKAP9 gene using non-integrative Sendai viral reprogramming technology. ZZUSAHi004-A showed normal male karyotype (46, XY), expressed pluripotency markers and could differentiate into all three germ layers in vitro. ZZUSAHi004-A can serve as a cell disease model in the understanding of LQT11 pathogenesis. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ding T, Zhu W, Li X, Jian L |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Dec;65:102966 |
| PubMed | 36395689 |
| DOI | 10.1016/j.scr.2022.102966 |