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

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, bu...

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Published in:Stem cell research 2022-04, Vol.60, p.102739-102739, Article 102739
Main Authors: Ishikawa, Kei-ichi, Ishiguro, Mayu, Li, Yuanzhe, Nishioka, Kenya, Hattori, Nobutaka, Akamatsu, Wado
Format: Article
Language:English
Subjects:
Clone Cells - metabolism
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Mutation
Parkinson Disease - genetics
Parkinson Disease - metabolism
Vesicular Transport Proteins - genetics
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102739