mProX™ Human KCNK9 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- Ion Channel Cell Lines
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Published Data
Fig.1 Mutant KCNK3 channels in COS7 cells.
Normal voltage clamp recordings of V221L (bottom) and wildtype (WT) KCNK3. Sample current traces are displayed for pH values of 6.4 (blue), 7.4 (black), and 10.4 (red). For each voltage clamp recording, a voltage ramp (top) was applied, ranging from -120 mV to +60 mV over 0.5 s, every 3 s. The holding potential was set at -80 mV.
Ref: Bohnen, Michael S., et al. "The Impact of Heterozygous KCNK 3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery." Journal of the American Heart Association 6.9 (2017): e006465.
Pubmed: 28889099
DOI: 10.1161/JAHA.117.006465
Research Highlights
By showing the intricate etiology of KIS, which includes gain and loss of channel function as well as a persistent loss of channel control, this study adds to our understanding of the mechanisms underlying KIS.
Cousin, Margot A., et al. "Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome." Genome medicine 14.1 (2022): 62.
Pubmed:
35698242
DOI:
10.1186/s13073-022-01064-4
Congenital hypotonia, varied cleft palate, normal MRIs and EEGs, delayed development, and feeding issues are all present in patients with KCNK9 imprinting syndrome.
Graham Jr, John M., et al. "KCNK9 imprinting syndrome-further delineation of a possible treatable disorder." American Journal of Medical Genetics Part A 170.10 (2016): 2632-2637.
Pubmed:
27151206
DOI:
10.1002/ajmg.a.37740