Literature DB >> 30769329

Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene.

Henriette R Frederiksen1, Bjørn Holst2, Ulrike A Mau-Holzmann3, Kristine Freude1, Benjamin Schmid4.   

Abstract

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. Resource table.
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2019        PMID: 30769329     DOI: 10.1016/j.scr.2019.101403

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  2 in total

1.  Downregulation of GABA Transporter 3 (GAT3) is Associated with Deficient Oxidative GABA Metabolism in Human Induced Pluripotent Stem Cell-Derived Astrocytes in Alzheimer's Disease.

Authors:  Claudia Salcedo; Antonie Wagner; Jens V Andersen; Kasper Tore Vinten; Helle S Waagepetersen; Arne Schousboe; Kristine K Freude; Blanca I Aldana
Journal:  Neurochem Res       Date:  2021-03-12       Impact factor: 3.996

Review 2.  Aortic "Disease-in-a-Dish": Mechanistic Insights and Drug Development Using iPSC-Based Disease Modeling.

Authors:  Hongorzul Davaapil; Deeti K Shetty; Sanjay Sinha
Journal:  Front Cell Dev Biol       Date:  2020-10-28
  2 in total

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