Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic
Karina Goluba1, Vadims Parfejevs1, Anastasija Neimane1
1University of Latvia, Riga, Latvia.
Stem Cell Research
|August 20, 2025
Abstract:
Calpainopathy is a progressive autosomal recessive limb girdle muscular dystrophy (LGMD R1) caused by variants in the calpain 3 (CAPN3) gene. We have shown that the hypomorphic intronic mutation c.1746-20C > G, which is common in Latvia (MAF 0.237), causes incorrect splicing of the CAPN3 products that in combination with c.643 T > C variant in trans position leads to the development of LGMD clinical symptoms. Our project aims to generate calpainopathy patient-derived induced pluripotent stem cells (iPSCs) and create a disease model that recapitulates unique CAPN3 variant.
