From: The march of pluripotent stem cells in cardiovascular regenerative medicine
Disease modeled | Genetic disorder | Phenotypical assessment | iPSC-CM abnormality | Patients | Control | Reference(s) |
---|---|---|---|---|---|---|
LQTS-1 | KCNQ1 | Patch clamp Immunohistochemistry | Iks decrease Adrenergic response | 2 | 2 healthy individuals | [10] |
LQTS-2 | KCNH2 | Patch clamp Electron recording Pharmacology | Iks decrease APD prolongation | 1 | 1 healthy individual | [229] |
LQTS-2 | KCNH2 | Patch clamp Microscopy | APD prolongation Drug sensitivity increase | 2 | CMs from HUES7 cell lines and genetically unrelated hESC-derived fibroblasts | [13] |
LQTS-8 (Timothy syndrome) | CACNA1C | Patch clamp | ICa | 2 | 2 healthy individuals | [11] |
Leopard syndrome (HCM) | PTPN11 | Microscopy Immunocytochemistry Western blotting Antibody array | Large cells, high degree of sarcomeric organization, preferential nuclear localization of NFATC4 | 2 | hESCs and 1 healthy individual | [12] |
DCM | TNNT2 | Patch clamp Electrode recordings Microelectrode array Atomic force microscopy | Altered Ca2+ handling Decreased contractility, abnormal sarcomeric organization, increased susceptibility to adrenergic stimulation and bio-mechanical stress | Many | Many healthy individuals | [257] |