Table 2.
Summary of studies on modelling LQTS using patient-specific iPSCs
| Gene (Genotype) | Cellular phenotype | References |
|---|---|---|
| KCNQ1 (LQTS1) | Reduced IKs, APD prolongation, relief of the diseased phenotype by β blockers, restored IKs function by LUF7346 | (Refs 35, 110) |
| KCNH2 (LQTS2) | Reduced IKr, APD prolongation, EADs, LUF7346 restored the IKr activation | (Refs 102, 103, 104, 110) |
| SCN5A (LQTS3) | APD prolongation, delayed INa inactivation, expedited recovery from INa inactivation | (Refs 46, 48, 106, 168) |
| KCNE1 | Reduced IKs | (Refs 64, 65, 169) |
| KCNE2 | Reduced IKr | (Refs 165, 170) |
| KCNJ2 (Andersen-Tawil Syndrome) | Severe arrhythmic issues, abnormal intracellular Ca2 + release, flecainide attenuated the symptoms of arrhythmia and recovered the Ca2 + handling | (Ref. 171) |
| CACNAC1 (Timothy Syndrome) | APD prolongation, aberrant Ca2 + release, unusual and slow contraction | (Ref. 107) |
| KCNJ5 | Reduced IK,ACh | (Ref. 69) |
| CALM1 (Recurrent Infantile Cardiac Arrest Syndrome) | APD prolongation, deficient ICa,L inactivation, verapamil rescued the abnormal repolarisation, altered rate-dependency and response to isoproterenol. | (Ref. 108) |
| CALM2 (Recurrent Infantile Cardiac Arrest Syndrome) | APD prolongation, irregular ICa,L inactivation, descending Ca2 + /Calmodulin-dependent inactivation of ICa,L | (Refs 109, 172) |