Generation of two LGMDR4 patients derived induced pluripotent stem cell line carrying the SGCB frameshift mutation...

Limb-Girdle Muscular Dystrophy Recessive type 4 (LGMDR4) is an autosomal recessive disorder caused by mutations in the SGCB gene and characterized by progressive proximal muscle weakness, often accompanied by respiratory and cardiac involvement. We generated two induced pluripotent stem cell (iPSC) lines from PBMCs of two related LGMDR4 patients carrying an eight-nucleotide duplication (c.377_384dupCAGTAGGA) in exon 3 of SGCB, resulting in a frameshift mutation (p.Gly129_Arg130insGlnTer). The iPSC lines exhibit typical undifferentiated morphology, express key stem cell-associated markers, differentiate into all three germ layers, and maintain a normal karyotype, providing a valuable model for studying disease mechanisms and developing therapies for LGMDR4.