Generation of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation

Abstract

Nemaline myopathy is a rare genetic condition characterized by weakened muscles due to thread-like rods, called nemaline bodies, in muscle fibers. This condition varies in time of onset and severity. Although there is no cure, therapies and treatments are available to reduce symptoms. This iPSC line, NCHi023-A, was reprogrammed using Sendai virus from skin fibroblasts from a male patient with nemaline myopathy carrying a pathogenic heterozygous ACTA1 mutation. Characterization of this line was successful, with validation of cell identity, normal morphology and karyotype, positive expression of germ layer and pluripotency markers, and negative expression for mycoplasma and transgenes.