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

被引：3

作者：

Chiu, Ching-Chi ^{[1
,2
,3
]}

Wang, Hung-Li ^{[1
,4
,5
]}

Weng, Yi-Hsin ^{[6
,7
]}

Chen, Rou-Shayn ^{[6
,7
]}

Chen, Chiung-Mei ^{[6
,7
]}

Yeh, Tu-Hsueh ^{[1
,8
]}

Lu, Chin-Song ^{[1
,7
]}

Chen, Yu-Jie ^{[1
]}

Liu, Yu-Chuan ^{[9
]}

Huang, Ying-Zu ^{[1
,5
,7
,10
]}

Chang, Kuo-Hsuan ^{[6
,7
]}

机构：

[1] Chang Gung Mem Hosp Linkou, Neurosci Res Ctr, Taoyuan, Taiwan

[2] Chang Gung Univ, Coll Med, Dept Med Biotechnol & Lab Sci, Taoyuan, Taiwan

[3] Chang Gung Univ Sci & Technol, Dept Nursing, Taoyuan, Taiwan

[4] Chang Gung Univ, Dept Physiol & Pharmacol, Coll Med, Taoyuan, Taiwan

[5] Chang Gung Univ, Coll Med, Hlth Aging Res Ctr, Taoyuan, Taiwan

[6] Chang Gung Univ, Coll Med, Taoyuan, Taiwan

[7] Chang Gung Mem Hosp Linkou, Dept Neurol, Taoyuan, Taiwan

[8] Taipei Med Univ Hosp, Dept Neurol, Taipei, Taiwan

[9] Taiwan Landseed Hosp, Div Sports Med, Taoyuan, Taiwan

[10] Natl Cent Univ, Inst Cognit Neurosci, Taoyuan, Taiwan

来源：

STEM CELL RESEARCH | 2019年 / 40卷

关键词：

D O I：

10.1016/j.scr.2019.101552

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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.

引用

页数：5

共 38 条

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