Generation of three hiPSC clones from a Parkinson's disease patient with a heterozygous variant of VPS35 p.D620N

Kei-Ichi Ishikawa; Mayu Ishiguro; Yuanzhe Li; Kenya Nishioka; Nobutaka Hattori; Wado Akamatsu

doi:10.1016/j.scr.2022.102739

Generation of three hiPSC clones from a Parkinson's disease patient with a heterozygous variant of VPS35 p.D620N

Stem Cell Res. 2022 Apr:60:102739. doi: 10.1016/j.scr.2022.102739. Epub 2022 Feb 28.

Authors

Kei-Ichi Ishikawa¹, Mayu Ishiguro², Yuanzhe Li², Kenya Nishioka², Nobutaka Hattori², Wado Akamatsu³

Affiliations

¹ Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan; Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. Electronic address: [email protected].
² Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
³ Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.

PMID: 35247840
DOI: 10.1016/j.scr.2022.102739

Abstract

Approximately 10% of Parkinson's disease cases are familial and more than 20 disease-related genes have been identified. The VPS35 gene causes a rare type of Parkinson's disease called PARK17, which is inherited in an autosomal dominant manner. The VPS35 gene encodes a retromer complex, but the pathogenic mechanism involved in PARK17 is unknown. Here, we established three isogenic induced pluripotent stem cell (iPSC) lines from a patient harboring a heterozygous VPS35 c.1858G > A (p.D620N) variant. The derived iPSCs showed pluripotency, the capacity to differentiate into three germ layers, and normal karyotypes.

Publication types

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

MeSH terms

Clone Cells / metabolism
Heterozygote
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation
Parkinson Disease* / genetics
Parkinson Disease* / metabolism
Vesicular Transport Proteins / genetics

Substances

VPS35 protein, human
Vesicular Transport Proteins