Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene
Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene
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DOI：
10.1016/j.scr.2019.101403
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发表时间：
2019-03-01
影响因子：
1.2
通讯作者：
Schmid, Benjamin
中科院分区：
文献类型：
--
作者：
Frederiksen, Henriette R.;Holst, Bjorn;Schmid, Benjamin
阿尔茨海默病（AD）是痴呆症最常见的形式。已知编码早老素1的基因PSEN 1的突变引起家族性AD，发病年龄较早。PSEN 1基因中最常见的突变是E280 A突变。iPSC是AD建模的最佳选择，因为它们可以在体外分化为神经细胞。在这里，我们报告了两个同基因iPSC系的产生，在PSEN 1基因中具有纯合或杂合的E280 A突变。使用CRISPR-Cas9技术将突变引入来自健康个体的iPSC系中。
Alzheimer's disease (AD) is the most common form of dementia. Mutations in the gene PSEN1 encoding Presenilin1 are known to cause familial forms of AD with early age of onset. The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells. Here, we report the generation of two isogenic iPSC lines with either a homozygous or a heterozygous E280A mutation in the PSEN1 gene. The mutation was introduced into an iPSC line from a healthy individual using the CRISPR-Cas9 technology.