Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464G>A pathogenic variant
Summary
Long QT syndrome (LQTS), an inherited cardiac ion channelopathy, is associated with ventricular arrhythmias and risk of sudden death. LQTS sub-type 2 (LQT2) is caused by pathogenic variants in KCNH2 encoding the α-subunit of Kv11.1, thus affecting the rapid component of delayed rectifier K+ current (IKr) channel during the action potential. In this study, non-integrational Sendai reprogramming method was used to generate an induced-pluripotent-stem-cell (iPSC) line carrying the KCNH2 c.2464G>A (p.Val822Met) pathogenic variant from a LQT2 patient. This patient-specific iPSC line NUIGi003-A harbouring the c.2464G>A variant expressed pluripotency markers and demonstrated the differentiation potential to all three germ layers. Copyright © 2020. Published by Elsevier B.V.
| Authors | Ge N, Liu M, Krawczyk J, McInerney V, Ward D, Shen S, O'Brien T, Prendiville T |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:101997 |
| PubMed | 33002718 |
| DOI | 10.1016/j.scr.2020.101997 |