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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 [28, 29]
H222P Cardiac conduction defeats, chamber dilation and enhanced incidence of fibrosis; muscular dystrophy [20, 24, 52, 53]
N195K DCM and conduction system disease; irregular heart rhythm [25]
Human HGPS Epigenetic alternation associated with premature aging; vascular aging; premature osteogenesis [42, 44, 45, 48]
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) [6, 52, 5456]
  1. AV atrioventricular, CMC cardiomyocyte, DCM dilated cardiomyopathy, HGPS Hutchinson Gilford progeria syndrome, iPSC induced pluripotent stem cell