从携带致病性 SNCA p.A53T 变异的帕金森病患者 iPSC 系中生成基因校正的同基因对照。

Generation of gene-corrected isogenic controls from Parkinson's disease patient iPSC lines carrying the pathogenic SNCA p.A53T variant.

机构信息

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

出版信息

Stem Cell Res. 2023 Jun;69:103125. doi: 10.1016/j.scr.2023.103125. Epub 2023 May 17.

DOI:10.1016/j.scr.2023.103125

PMID:37229975

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10411637/

Abstract

Pathogenic variants in the alpha-synuclein (SNCA) gene cause familial forms of Parkinson's disease (PD). Here, we describe generation of six isogenic controls from iPS cell lines derived from two PD disease patients carrying the SNCAp.A53T variant. The controls were created using CRISPR/Cas9 technology and are available for use by the PD research community to study A53T-related synucleinopathies.

摘要

α-突触核蛋白（SNCA）基因中的致病变异可导致帕金森病（PD）的家族形式。在这里，我们描述了从携带 SNCAp.A53T 变异的两名 PD 患者的 iPS 细胞系中生成的六个同基因对照。这些对照是使用 CRISPR/Cas9 技术创建的，可供 PD 研究界用于研究 A53T 相关的突触核蛋白病。