mProX™ Human KCNH2 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- Ion Channel Cell Lines
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Published Data
Fig.1 IKr densities in mutated and corrected LQT2-hiPSC-derived CMs.
Typical current traces in mutant and corrected LQT2-hiPSC-derived CMs are displayed before and after the addition of 1 μM of E-4031; IKr is defined as the E-4031-sensitive current.
Ref: Bellin, Milena, et al. "Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome." The EMBO journal 32.24 (2013): 3161-3175.
Pubmed: 24213244
DOI: 10.1038/emboj.2013.240
Research Highlights
Genetic variables have a role in the substantial phenotypic diversity observed in family members with the same mutation in Long QT syndrome (LQTS).
Caballero, Ricardo, et al. "Tbx20 controls the expression of the KCNH2 gene and of hERG channels." Proceedings of the National Academy of Sciences 114.3 (2017): E416-E425.
Pubmed:
28049825
DOI:
10.1073/pnas.1612383114
The objective of this investigation was to examine the biophysical characteristics of a KCNH2 channel with a shortened C-terminus, G1006fs/49, which results in long QT syndrome type II in heterozygous Italian family members.
De Zio, Roberta, et al. "Functional study of a KCNH2 mutant: novel insights on the pathogenesis of the LQT2 syndrome." Journal of Cellular and Molecular Medicine 23.9 (2019): 6331-6342.
Pubmed:
31361068
DOI:
10.1111/jcmm.14521
