Generation of three iPSC lines from patients with CACNA1S related congenital myopathy

Abstract

CACNA1S gene variants are associated with congenital myopathies (CMyo) with triad dysfunction (triadopathies), malignant hyperthermia susceptibility, hypokalemic periodic paralysis and thyrotoxic periodic paralysis. Here, we generated three iPSC lines derived from patients with CMyo linked to both autosomal dominant and recessive CACNA1S variants (CACNA1S-CMyo). The three lines displayed typical iPSC morphology, uniform expression of markers of the undifferentiated state, trilineage differentiation potential and normal karyotypes. As CACNA1S-CMyo are ultra-rare disorders, these lines enable a better in vitro characterization of CACNA1S pathophysiology and can be used to test different treatment approaches.