Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.

BAG3 is a central component of the chaperone-assisted selective autophagy complex and thus important for proteostasis. This function is affected by a point mutation (p.P209L; c.626C>T) in the BAG3 gene, leading to myofibrillar myopathy-6 (MFM6), restrictive cardiomyopathy and polyneuropathy, which manifests as severe skeletal muscle weakness and heart failure. The isogenic induced pluripotent stem cell (iPSC) control line was generated by correcting for c.626C>T in iPSCs from MFM6-patient. Quality control was achieved by testing for pluripotency and differentiation into the three germ layers. In conjunction with patient-specific MFM6 hiPSC, the isogenic hiPSC control line enable the correct analysis of MFM6.