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从一名携带PARK2突变的帕金森病患者中生成人诱导多能干细胞（JUCGRMi003-A）。

Generation of hiPSCs (JUCGRMi003-A) from a patient with Parkinson's disease with PARK2 mutation.

作者信息

Ishikawa Kei-Ichi, Okuzumi Ayami, Yoshino Hiroyo, Hattori Nobutaka, Akamatsu Wado

机构信息

Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Department of Research and Development for Organoids, Juntendo University School of Medicine, Tokyo, Japan.

Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.

出版信息

Stem Cell Res. 2024 Apr;76:103323. doi: 10.1016/j.scr.2024.103323. Epub 2024 Jan 30.

DOI:10.1016/j.scr.2024.103323
PMID:38309147
Abstract

PARK2 is the most common autosomal recessive form of Parkinson's disease and is caused by mutations in parkin that result in early-onset loss of dopaminergic neurons in the substantia nigra. In this study, we established an induced pluripotent stem cell (iPSC) line from a patient harboring a homozygous exon 3 deletion in PARK2. The established iPSCs showed pluripotency, the capacity to differentiate into the three germ layers, and normal karyotypes.

摘要

PARK2是帕金森病最常见的常染色体隐性遗传形式，由parkin基因突变引起，导致黑质中多巴胺能神经元早期丧失。在本研究中，我们从一名患有PARK2纯合外显子3缺失的患者中建立了诱导多能干细胞（iPSC）系。所建立的iPSC表现出多能性、分化为三个胚层的能力以及正常的核型。

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