Journal
STEM CELL RESEARCH
Volume 56, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102555
Keywords
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Funding
- Natural Science Research Programmes of the Educational Department of Hebei Province [BJ2019017]
- Science Foundation of Hebei Normal University [L2019B25]
- Irish Research Council-Enterprise Partnership Scheme Postdoctoral Fellowship [EPS PD/2016/62]
- National Children's Research Centre (NCRC)
- HRB-Clinical Research Facility Galway (NUI Galway and Saolta University Health Care Group)
- Galway University Foundation
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Long QT syndrome type 2 (LQT2) is associated with mutations in the KCNH2 gene, leading to loss of Kv11.1 channel function and disruption of channel assembly and trafficking in cells. Patient-derived iPSCs provide a valuable tool for studying disease pathology and identifying potential therapeutic targets.
Long QT syndrome type 2 (LQT2) is associated with KCNH2, which encodes the alpha subunit of the ion channel that controls the K+ current in the heart. Mutations of KCNH2 cause loss of Kv11.1 channel function by disrupting subunit folding, assembly, or trafficking of the channel to the cell surface. Here we generated two induced pluripotent stem cell (iPSC) lines from two patients carrying mutation in KCNH2 gene. These iPSCs express the pluripotent markers and have the capacity of differentiation into other cell types. These patient-derived iPSCs are useful for investigating the disease pathology and identifying the therapeutic target.
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