Characterisation of the patient-specific induced pluripotent stem cell line UKEi075-A carrying the heterozygous PRKAG2 frameshift variant c.769_770del (p.E257Kfs*15)

Missense variants in PRKAG2, the gene encoding for the γ2-subunit of adenosine monophosphate-activated protein kinase (AMPK), can cause hypertrophic cardiomyopathy, cardiac conduction defects and glycogen storage disorders. Clinical consequences evoked by truncating PRKAG2 variants are poorly understood. Dermal fibroblasts of a male dilated cardiomyopathy-patient carrying the truncating PRKAG2 variant c.769_770del (p.E257Kfs*15) at a heterozygous state were reprogrammed by Sendai virus-mediated expression of OCT-4, SOX2, c-Myc and KLF4 to human induced pluripotent stem cells (hiPSCs). HiPSCs displayed a normal karyotype, high pluripotency, mycoplasma-absence and were successfully differentiated into three primary germ layers. This hiPSC-line will enable analysing molecular pathomechanisms underlying PRKAG2-cardiomyopathy.