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
Journal
Stem Cell Research
Journal Volume
49
Date Issued
2020
Author(s)
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. ? 2020 The Author(s)
SDGs
Other Subjects
mutant protein; succinate dehydrogenase (ubiquinone); ubiquinol cytochrome c reductase; aged; animal experiment; animal model; animal tissue; Article; cell differentiation; controlled study; familial disease; gene; gene mutation; germ layer; heterozygote; human; human cell; induced pluripotent stem cell; male; missense mutation; mitochondrion; mouse; neurite; nonhuman; parkinsonism; peripheral blood mononuclear cell; polyneuropathy; priority journal; Sendai virus; uqcrc1 gene
Publisher
Elsevier B.V.
Type
journal article