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

Autor: Tongbin Ding, Wenli Zhu, Xiaowei Li, Liguo Jian
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Stem Cell Research, Vol 65, Iss , Pp 102966- (2022)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2022.102966
Popis: 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.
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