A human cellular model for bi-allelic MYBPC3 truncating mutation

Title	A human cellular model for bi-allelic MYBPC3 truncating mutation
Acronym	MYBPC3tt
Start date
End date
Sponsor	[no_sponsor]
Institution	University Medical Center Hamburg-Eppendorf
Principal investigator	Lucie Carrier E-Mail: l.carrier@uke.de

Associated cell lines

• UKEi070-A (Het)
• UKEi070-A-1 (Iso Co, Rep 28)
• UKEi070-A-2 (Bi-allelic mutant, Mut 103)

Project Description

Severe forms of neonatal cardiomyopathy leading to heart failure and premature death can be caused by homozygous or compound heterozygous truncating mutations in the MYBPC3 gene, encoding cardiac myosin-binding protein C. The only treatment option for these patients is heart transplantation. Therefore alternative therapeutic options are needed. The aim of this project is to establish a human cellular model of bi-allelic MYBPC3 truncating mutation and isogenic control in human induced pluripotent stem cells (hiPSCs) with CRISPR/Cas9 genetic tools, and to evaluate the molecular and functional phenotypes in cardiomyocytes derived from these hiPSC lines. The mutant hiPSC-derived cardiomyocytes can then be used to test new therapeutic options.