Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations
Summary
Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14). Previously, we identified PARK14 patients with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/p.M358IfsX) mutations. The c.1077G > A mutation led to a four base-pairs deletion and frameshift mutation (p.M358IfsX) of PLA2G6 mRNA. We established induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/ p.M358IfsX) mutations by using Sendai-virus delivery system. The iPSCs exhibited pluripotency and in vivo differentiation potential. The iPSCs can be used for studying the molecular pathogenic mechanism of PARK14. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Chiu CC, Wang HL, Weng YH, Chen RS, Chen CM, Yeh TH, Lu CS, Chen YJ, Liu YC, Huang YZ, Chang KH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Oct;40:101552 |
| PubMed | 31493761 |
| DOI | 10.1016/j.scr.2019.101552 |