Table 6 In vitro models of inherited cardiac metabolic disorders
Disease | Modeling strategy: hiPSCs-CM genotype | Features | In vitro models | Ref. |
|---|---|---|---|---|
Fabry Disease | Patient-derived GLA mutation | Gb3 accumulation Hypertrophy Increased electrical excitability | 2D monolayer | |
Danon Disease | Patient-derived LAMP2 mutation | Impairment in autophagic flux Increased cell size Increased expression of natriuretic peptides Defective calcium handling Increased oxidative stress and apoptosis | 2D monolayer | |
CRISPR-edited LAMP2 KO | Sarcomere disarray Increased oxidative stress CaMKIIδ overactivation Defective calcium handling | |||
Pompe Disease | Patient-derived GAA mutation | Defective LAMP1/2 glycosylation and impaired N-linked synthesis | EHT |
