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2 results on '"Ching Chi Chiu"'

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

Author

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, and Kuo-Hsuan Chang

Subjects
Biology (General), QH301-705.5
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.

Published
2019
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2. Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations

Author

Yi Hsin Weng, Rou Shayn Chen, Chin Song Lu, Ying-Zu Huang, Tu Hsueh Yeh, Yu Jie Chen, Kuo Hsuan Chang, Yu Chuan Liu, Ching Chi Chiu, Chiung Mei Chen, and Hung Li Wang

Subjects
0301 basic medicine, Adult, Heterozygote, Induced Pluripotent Stem Cells, Biology, Compound heterozygosity, medicine.disease_cause, Peripheral blood mononuclear cell, Frameshift mutation, Cell Line, Group VI Phospholipases A2, 03 medical and health sciences, 0302 clinical medicine, In vivo, medicine, Humans, Point Mutation, Induced pluripotent stem cell, Frameshift Mutation, Gene, lcsh:QH301-705.5, Cell Proliferation, Mutation, Neurodegeneration, Cell Differentiation, Parkinson Disease, Cell Biology, General Medicine, medicine.disease, Molecular biology, 030104 developmental biology, lcsh:Biology (General), Female, 030217 neurology & neurosurgery, Developmental Biology
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.

Published
2019

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