Patient-Specific iPSC-Derived Cardiomyocytes Reveal Abnormal Regulation of FGF16 in a Familial Atrial Septal Defect

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The authors generated a patient-specific iPSC line from a family cohort carrying a hereditary atrial septal defect (ASD) mutation in GATA4 gene, as well as a hESC line carrying the isogenic T280M mutation using the CRISPR/Cas9 genome editing method. The GATA4-mutant iPSCs and ESCs were then differentiated into cardiomyocytes to model GATA4 mutation-associated ASD.
[Cardiovascular Research]
Ye, L., Yu, Y., Zhao, Z.-A., Zhao, D., Ni, X., Wang, Y., Fang, X., Yu, M., Wang, Y., Tang, J.-M., Chen, Y., Shen, Z., Lei, W., & Hu, S. (2021). Patient-specific iPSC-derived cardiomyocytes reveal abnormal regulation of FGF16 in a familial atrial septal defect. Cardiovascular Research, cvab154. https://doi.org/10.1093/cvr/cvab154 Cite
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