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

A heterozygous truncating PRKAG2 frameshift variant (c.769_770del; p.E257Kfs*15) patient-derived hiPSC line, UKEi075-A, shows normal karyotype and high pluripotency.

• Why it matters: Truncating PRKAG2 variants can produce cardiomyopathy and conduction or glycogen-storage phenotypes, but their clinical consequences and molecular mechanisms remain poorly defined.
• What they did: Dermal fibroblasts from a male dilated cardiomyopathy patient were reprogrammed to hiPSCs using Sendai virus expression of OCT-4, SOX2, c-Myc, and KLF4, followed by pluripotency and differentiation testing.
• The result: The resulting UKEi075-A line lacked mycoplasma, maintained normal karyotype, and differentiated into all three germ layers, enabling studies of PRKAG2-cardiomyopathy pathomechanisms.

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