Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations

Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations

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...

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Bibliographic Details
Main Authors: Ching-Chi Chiu, Hung-Li Wang, Yi-Hsin Weng, Rou-Shayn Chen, Chiung-Mei Chen, Tu-Hsueh Yeh, Chin-Song Lu, Yu-Jie Chen, Yu-Chuan Liu, Ying-Zu Huang, Kuo-Hsuan Chang
Format: Article
Language:English
Published: Elsevier 2019-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119301825
Description
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.
ISSN:1873-5061

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