Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-057-05) from a patient with familial parkinsonism and polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1 gene

Abstract

A novel missense mutation, c.941A > C (p.Y314S), in mitochondrial ubiquinol-cytochrome c reductase core protein I (UQCRC1) gene, was recently identified in a family with autosomal-dominant late-onset parkinsonism and polyneuropathy. UQCRC1 encodes a mitochondria respiratory complex III protein. Mutant UQCRC1 cells showed decreased mitochondrial activity and neurite degeneration. Here, we used the Sendai virus delivery system to generate induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a male patient having a heterozygous UQCRC1 p.Y314S mutation. The established iPSCs could differentiate into three germ layers in vivo. This cellular model provides a platform for further studies of UQCRC1-related parkinsonism and polyneuropathy.