Table 2.

Studies in hESC-CMs or hiPS-CMs

Study	Model	Mutation	Allelic Imbalance % mutant MYBPC3 mRNA	Haploinsufficiency % MYBPC3 protein compared to control	p-value for protein level	Protein detection method	Phenotype
Tanaka et al. (2014)[73]	hiPS-CM embryoid bodies	p.Gly999_Gln1004del	Not reported	~80% at day 60	p<0.05	Immunoblot normalized to GAPDH	Cellular hypertrophy, myofibrillar disarray
Birket et al. (2015)[9]	hiPS-CM	c.2373dupGp.Trp792Valfs*41	Not reported	<50% at day 25	p<0.05	Immunoblot normalized to α-actinin	Reduced force generation No cellular hypertrophy
Monteiro da Rocha et al. (2016)[56]	hES-CM	c.2905+1 G>A	<10%	~50% only at day 17 of differentiation. No difference at day 30.	p=0.04	Immunoblot normalized to α-actinin	Cellular hypertrophy, sarcomere disarray, dysregulated Ca2+ homeostasis
Prondzyns ki et al. (2017)[66]	hiPS-CM	p.Val454Cysfs*21	Not reported	~50%	p=0.064	Immunoblot normalized to α-actinin	Cellular hypertrophy
Ribeiro et al. (2017)[67]	hiPS-CM	TALEN-engineered KO via stop codon in exon 1	~50%	Reduced; not quantified	Not reported	Immunoblot normalized to α-actinin	Contractile defects, Reduced force generation