PMID- 35526388
OWN - NLM
STAT- MEDLINE
DCOM- 20220620
LR  - 20220706
IS  - 1876-7753 (Electronic)
IS  - 1873-5061 (Linking)
VI  - 62
DP  - 2022 Jul
TI  - Establishment of human embryonic stem cell WAe009-A-88 carrying a long QT 
      syndrome mutation in KCNH2.
PG  - 102795
LID - S1873-5061(22)00144-1 [pii]
LID - 10.1016/j.scr.2022.102795 [doi]
AB  - Long-QT syndrome type 2 (LQT2) is a life-threatening Mendelian disease caused by 
      genetic variants in KCNH2. Herein, we generated a human embryonic stem cell line 
      (WAe009-A-88) carrying a LQT2 related mutation in KCNH2, c.1720 A>G. The 
      WAe009-A-88 line maintained stem cell-like morphology, expressed high levels of 
      pluripotent markers, had a normal karyotype, and could differentiate into all 
      three germ layers in vivo. The cell line can serve as valuable tools for modeling 
      LQT2 in vitro and investigating the pathological mechanisms related to KCNH2 
      mutations.
CI  - Copyright (c) 2022 The Authors. Published by Elsevier B.V. All rights reserved.
FAU - Wen, Hong
AU  - Wen H
AD  - Department of Geriatric Cardiology & Guangxi Key Laboratory of Precision Medicine 
      in Cardio-Cerebrovascular Diseases Control and Prevention & Guangxi Clinical 
      Research Center for Cardio-Cerebrovascular Diseases, The First Affiliated 
      Hospital of Guangxi Medical University, Nanning, Guangxi, China.
FAU - Sun, Lixiang
AU  - Sun L
AD  - Guangxi Key Laboratory of Precision Medicine in Cardio-cerebrovascular Diseases 
      Control and Prevention & Guangxi Clinical Research Center for 
      Cardio-cerebrovascular Diseases, Nanning, Guangxi, China.
FAU - Zhong, Jiaqi
AU  - Zhong J
AD  - Translational Medicine Collaborative Innovation Center, Shenzhen People's 
      Hospital(The First Affiliated Hospital, Southern University of Science and 
      Technology, The Second Clinical Medical College of Jinan University), Shenzhen 
      518055, Guangdong, China; Guangdong Engineering Technology Research Center of 
      Stem Cell and Cell Therapy, Shenzhen Key Laboratory of Stem Cell Research and 
      Clinical Transformation, Shenzhen Immune Cell Therapy Public Service Platform, 
      Shenzhen 518020, China.
FAU - Wu, Fujian
AU  - Wu F
AD  - Translational Medicine Collaborative Innovation Center, Shenzhen People's 
      Hospital(The First Affiliated Hospital, Southern University of Science and 
      Technology, The Second Clinical Medical College of Jinan University), Shenzhen 
      518055, Guangdong, China; Guangdong Engineering Technology Research Center of 
      Stem Cell and Cell Therapy, Shenzhen Key Laboratory of Stem Cell Research and 
      Clinical Transformation, Shenzhen Immune Cell Therapy Public Service Platform, 
      Shenzhen 518020, China. Electronic address: wufujian@jnu.edu.cn.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220428
PL  - England
TA  - Stem Cell Res
JT  - Stem cell research
JID - 101316957
RN  - 0 (ERG1 Potassium Channel)
RN  - 0 (KCNH2 protein, human)
SB  - IM
MH  - Cell Line
MH  - ERG1 Potassium Channel/genetics
MH  - *Human Embryonic Stem Cells/metabolism
MH  - Humans
MH  - *Long QT Syndrome/genetics/metabolism
MH  - Mutation/genetics
EDAT- 2022/05/09 06:00
MHDA- 2022/06/22 06:00
CRDT- 2022/05/08 18:10
PHST- 2022/04/13 00:00 [received]
PHST- 2022/04/26 00:00 [accepted]
PHST- 2022/05/09 06:00 [pubmed]
PHST- 2022/06/22 06:00 [medline]
PHST- 2022/05/08 18:10 [entrez]
AID - S1873-5061(22)00144-1 [pii]
AID - 10.1016/j.scr.2022.102795 [doi]
PST - ppublish
SO  - Stem Cell Res. 2022 Jul;62:102795. doi: 10.1016/j.scr.2022.102795. Epub 2022 Apr 
      28.