相关实验视频

Updated: Jul 1, 2025

Reconstruct Human Retinoblastoma In Vitro

Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

三个CRISPR/Cas9编辑的RB1零hiPSC线的生成和表征用于视网膜母细胞瘤疾病建模

Trupti Agrawal¹, Savitri Maddileti², Indumathi Mariappan²

¹Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Manipal Academy of Higher Education, Manipal, Karnataka, India.

Stem cell research

|March 7, 2024

概括

研究人员产生了三种诱导多能干细胞 (iPSC) 线,缺少RB1基因,这是视网膜母细胞瘤的关键因素. 这些RB1-null iPSC线对研究视网膜母细胞瘤的发展和潜在的治疗方法至关重要.

科学领域:

遗传学和基因组学在
干细胞生物学干细胞生物学
癌症研究癌症研究

背景情况:

RB1基因是一个关键的瘤抑制剂,其损失是视网膜母细胞瘤的主要原因.
诱导多能干细胞 (iPSCs) 为研究遗传疾病和开发个性化疗法提供了一个强大的模型.

研究的目的:

为了生成和表征新的视网膜母细胞瘤患者特异性诱导多能干细胞 (iPSC) 线,完全丧失RB1功能.
建立可靠的细胞模型来研究视网膜母细胞瘤的潜在机制,并选潜在的治疗化合物.

主要方法:

使用CRISPR/Cas9基因编辑,在健康的人类诱导多能干细胞 (hiPSC) 谱系中引入RB1基因第18个表突变.
编辑的细胞被克隆扩展,基因型,并以多能性,分化潜力,型稳定性和RB1表达为特征.

主要成果:

成功生成了三种独特的RB1缺乏的iPSC系:两种化合物异合体和一种同合体.
所有生成的iPSC系都保持了多能性,形成了来自三个胚胎层的衍生物的胚胎体,并表现出正常的型.
证实RB1表达在所有三个产生的突变iPSC系中都完全失去了.

结论:

该研究成功创建了功能性的RB1-null iPSC线,为视网膜母细胞瘤研究提供了有价值的工具.
这些细胞模型适合研究RB1损失的功能后果,并促进对视网膜母细胞瘤的新疗法开发.

更多相关视频

Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells

Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells

Published on: December 9, 2022

Efficient Generation of hiPSC Neural Lineage Specific Knockin Reporters Using the CRISPR/Cas9 and Cas9 Double Nickase System

Efficient Generation of hiPSC Neural Lineage Specific Knockin Reporters Using the CRISPR/Cas9 and Cas9 Double Nickase System

Published on: May 28, 2015

相关概念视频

The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...