期刊
STEM CELL REPORTS
卷 13, 期 2, 页码 394-404出版社
CELL PRESS
DOI: 10.1016/j.stemcr.2019.06.007
关键词
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资金
- Japan Society for the Promotion of Science KAKENHI [JP17K10141, 25461054]
- Japan Agency for Medical Research and Development, AMED [17930004, 17ek09294h0001]
- SENSHIN Medical Research Foundation
- Uehara Memorial Foundation
- Grants-in-Aid for Scientific Research [25461054] Funding Source: KAKEN
For long QT syndrome (LQTS), recent progress in genome-sequencing technologies enabled the identification of rare genomic variants with diagnostic, prognostic, and therapeutic implications. However, pathogenic stratification of the identified variants remains challenging, especially in variants of uncertain significance. This study aimed to propose a phenotypic cell-based diagnostic assay for identifying LQTS to recognize pathogenic variants in a high-throughput manner suitable for screening. We investigated the response of LQT2-induced pluripotent stem cell (iPSC)-derived cardiomyocytes (iPSC-CMs) following I-Kr blockade using a multi-electrode array, finding that the response to I-Kr blockade was significantly smaller than in Control-iPSC-CMs. Furthermore, we found that LQT1-iPSC-CMs and LQT3-iPSC-CMs could be distinguished from Control-iPSC-CMs by I(Ks)( )blockade and I-Na blockade, respectively. This strategy might be helpful in compensating for the shortcomings of genetic testing of LQTS patients.
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