Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing

被引：1
|
作者：
Korneck, M. [1 ,2 ,3 ]
Leonhardt, A. [2 ]
Schoels, L. [1 ,2 ]
Hauser, S. [1 ,2 ]
机构：
[1] Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany
[2] German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany
[3] Univ Tubingen, Grad Sch Cellular & Mol Neurosci, Tubingen, Germany
来源：
STEM CELL RESEARCH | 2024年 / 77卷
关键词：
D O I：
10.1016/j.scr.2024.103378
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations in REEP1 cause SPG31, an autosomal dominant form of hereditary spastic paraplegia (HSP). Here we show the generation of a homozygous and a heterozygous REEP1 knockout induced pluripotent stem cell line suitable for in vitro disease modelling using the CRISPR/Cas9 editing system.
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页数：5
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