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

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

doi:10.1016/j.scr.2019.101552

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

Stem Cell Res. 2019 Oct:40:101552. doi: 10.1016/j.scr.2019.101552. Epub 2019 Aug 27.

Authors

Affiliations

¹ Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Department of Medical Biotechnology and Laboratory Science, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Nursing, Chang Gung University of Science and Technology, Taoyuan, Taiwan.
² Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Department of Physiology and Pharmacology, Chang Gung University College of Medicine, Taoyuan, Taiwan; Healthy Aging Research Center, Chang Gung University College of Medicine, Taoyuan, Taiwan.
³ College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Neurology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan.
⁴ Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Department of Neurology, Taipei Medical University Hospital, Taipei, Taiwan.
⁵ Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Department of Neurology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan.
⁶ Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan.
⁷ Division of Sports Medicine, Taiwan Landseed Hospital, Taoyuan, Taiwan.
⁸ Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Healthy Aging Research Center, Chang Gung University College of Medicine, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Neurology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Institute of Cognitive Neuroscience, National Central University, Taoyuan, Taiwan. Electronic address: [email protected].
⁹ College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Neurology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan. Electronic address: [email protected].

PMID: 31493761
DOI: 10.1016/j.scr.2019.101552

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cell Differentiation
Cell Line / cytology
Cell Line / metabolism*
Cell Proliferation
Female
Frameshift Mutation
Group VI Phospholipases A2 / genetics*
Group VI Phospholipases A2 / metabolism
Heterozygote
Humans
Induced Pluripotent Stem Cells / cytology
Induced Pluripotent Stem Cells / metabolism*
Mutation
Parkinson Disease / genetics*
Parkinson Disease / metabolism
Parkinson Disease / physiopathology
Point Mutation

Substances

Group VI Phospholipases A2
PLA2G6 protein, human