Generation of Two Isogenic Induced Pluripotent Stem Cell Lines from a 10-Year-old Typical Nemaline Myopathy Patient with a Heterozygous Dominant C.541g>a (p.asp179asn) Pathogenic Variant in the ACTA1 Gene

Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of nemaline bodies in myofibres. Approximately 25% of NM cases are caused by variants in ACTA1. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 10-year-old female with typical NM harbouring a dominant pathogenic variant in ACTA1 (c.541C>A). The isogenic lines displayed typical iPSC morphology, expressed pluripotency markers, and could differentiate into each of the three germ layers. Although the lines have partial or complete X chromosome duplication, they may still prove useful as models of human ACTA1 disease.