Table 1 Phenotype of the mutated LMNA mouse model and the human iPSC model
From: Recent advances in animal and human pluripotent stem cell modeling of cardiac laminopathy
Model | LMNA mutation | Phenotype | Reference |
|---|---|---|---|
Animal | Knockout | Retarded growth rate and early death | [26] |
Conditional knockout | Hindered growth; postnatal cardiomyocyte hypertrophy, skeletal muscle dystrophy | ||
H222P | Cardiac conduction defeats, chamber dilation and enhanced incidence of fibrosis; muscular dystrophy | ||
N195K | DCM and conduction system disease; irregular heart rhythm | [25] | |
Human | HGPS | Epigenetic alternation associated with premature aging; vascular aging; premature osteogenesis | |
T655fsX49 | Lipodystrophy type 2; muscle hypertrophy; Atrial fibrillation (AF); cardiac conduction disease with first-degree AV block and homozygous patients showed frequent secondary-degree AV block; DCM; ventricular arrhythmia | [18] | |
R225X | Patients showed early onset of AF, secondary AV block and DCM; retarded human iPSC-derived cell proliferation, premature cell senescence; viability of CMCs susceptible to stress condition (e.g. electrical field stimulation) |