相关实验视频

Updated: Jul 24, 2025

Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells

Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells

Published on: September 25, 2019

在骨质疏松症患者衍生的iPSC中,CRISPR/Cas9介导的基因校正

Dandan Li^1,2, Minglin Ou^1,3, Wei Zhang^1,2

¹Clinical Medical Research Center, The Second Clinical Medical College of Jinan University (Shenzhen People's Hospital), 518020 Shenzhen, Guangdong, China.

Frontiers in bioscience (Landmark edition)

|July 3, 2023

概括

研究人员纠正了骨质疏松症特异性诱导多能干细胞 (iPSC) 中引起疾病的突变. 这创造了一个有价值的同位素控制细胞模型,用于研究骨质疏松病变的发生.

科学领域:

遗传学遗传学是一个
干细胞生物学干细胞生物学
罕见疾病罕见疾病

背景情况:

骨质疏松症是一种罕见的遗传疾病,由骨质细胞功能障碍引起,具有复杂且不完全理解的发病因子.
尽管确定了许多基因,但骨质疏松症背后的确切机制仍然不清楚.
诱导多能干细胞 (iPSCs) 为创建体外疾病和同位素控制模型提供了强大的工具.

研究的目的:

为了纠正骨质疏松症特异性iPSCs的致病突变.
为骨质疏松症研究生成同位素控制细胞模型.
为了促进未来对骨质疏松病变的研究.

主要方法:

利用CRISPR/Cas9基因编辑技术修复CLCN7基因中的R286W点突变.
使用先前确定的骨质疏松症特异性iPSCs (ADO2-iPSCs) 作为起始材料.
进行同源重组,以进行精确的基因校正.

主要成果:

成功生成基因纠正的ADO2-iPSCs (GC-ADO2-iPSCs).成功生成了基因纠正的ADO2-iPSCs (GC-ADO2-iPSCs).
确认了正常的型,多能性标记物表达和分化潜力到三个胚胎层.
验证了CLCN7基因突变的同卵性修复.

结论:

在ADO2-iPSCs中,CLCN7基因突变R286W得到了有效的纠正.
由此产生的同质性 iPSC 线可以作为一个理想的控制模型.
这种模型将在未来的研究中发挥重要作用,以阐明骨质疏松症的病原性.

关键词:

这就是CRISPR/Cas9的作用.基因纠正基因纠正这些是iPSCs.骨质疏松症是一种骨质疏松症.

更多相关视频

CRISPR/Cas9 Ribonucleoprotein-mediated Precise Gene Editing by Tube Electroporation

CRISPR/Cas9 Ribonucleoprotein-mediated Precise Gene Editing by Tube Electroporation

Published on: June 20, 2019

CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications

CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications

Published on: August 9, 2022

相关概念视频

iPS Cell Differentiation

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.

CRISPR

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...

CRISPR/Cas9 Genome Editing

CRISPR/Cas9 Genome Editing

The CRISPR-Cas system serves as a bacterial defense mechanism against invading genetic elements such as viruses and plasmids, forming the foundation for its adaptation as a powerful genome-editing tool. Originally discovered in prokaryotes, this system has been repurposed to revolutionize genetic engineering across a wide range of organisms, including plants, animals, and humans. The core component, Cas9, is an endonuclease derived from Streptococcus pyogenes, capable of introducing...