Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Nemaline myopathy (NM) is a congenital typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants alpha actin gene, ACTA1, cause approximately 25% all NM cases. We generated two induced pluripotent stem cell lines from lymphoblastoid cells 4-month-old female with severe harbouring dominant variant ACTA1 (c.553C > A). The isogenic displayed characteristic iPSC morphology, expressed pluripotency markers, differentiated into three germ layers, possessed normal karyotypes. These could be useful models human disease.