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

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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.

Original languageEnglish
Article number101552
JournalStem Cell Research
Volume40
DOIs
Publication statusPublished - Oct 2019

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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    Chiu, C. C., Wang, H. L., Weng, Y. H., Chen, R. S., Chen, C. M., Yeh, T. H., Lu, C. S., Chen, Y. J., Liu, Y. C., Huang, Y. Z., & Chang, K. H. (2019). 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 Research, 40, [101552]. https://doi.org/10.1016/j.scr.2019.101552