Table 5 In vitro models of inherited congenital heart defect (CHD)

From: Advanced in vitro cardiac models for drug evaluation: integration of organoids, engineered tissues, and microphysiological systems

Disease

Modeling strategy: hiPSCs-CM genotype

Features

In vitro models

Ref.

HAND1-associated CHD

CRISPR-edited

HAND1 and NKX2-5 KO

Deficient cavity formation

CO

47

ISL1-associated CHD

CRISPR-edited

ISL1 KO

Atrial and outflow tract malformation

Delayed onset of contraction

CO

51

TBX5-associated CHD

CRISPR-edited

TBX5 KO

Impaired CM differentiation

Affected heart compartments

Lack of spontaneous beating

CO

51

FOXF1-associated CHD

CRISPR-edited

FOXF1 KO

Abnormal cavity formation and differentiation

CO

51

Ebstein’s anomaly

Patient-derived

NKX2-5 mutation

Ventricular-to-atrial fate shift

Reduced sarcomere organization

CO

128

  1. HAND1 Heart and Neural Crest Derivatives Expressed 1, NKX2-5 NK2 Homeobox 5, KO knockout, CO cardiac organoid, CM cardiomyocyte, ISL1 ISL LIM Homeobox 1, TBX5 T-box transcription factor 5, FOXF1 forkhead box F1
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