Derivation of human pluripotent stem cell line via CRISPR/Cas9 mediated deletion of exon 3 LAMA2 gene (DMBi001-A-1)

Abstract

LAMA2-related muscular dystrophy (LAMA2-MD) results from mutations in LAMA2 gene, encoding laminin α-2. It is a congenital disease characterized by muscle wasting, with the most severe version being diagnosed within first few months after birth. To generate LAMA2-DM in vitro model, we excised exon 3 from the LAMA2 gene in our previously derived healthy human induced pluripotent stem cells (hiPSCs). Obtained hiPSCs show expression of pluripotency markers, differentiation capacity into all three germ layers, normal karyotype and lack of LAMA2 expression on mRNA and protein level after differentiation into skeletal myocytes. Accordingly, it may provide novel insight into the molecular basis of LAMA2-MD.