2019
DOI: 10.1016/j.scr.2019.101403
|View full text |Cite
|
Sign up to set email alerts
|

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

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

0
11
0

Year Published

2019
2019
2024
2024

Publication Types

Select...
7
1

Relationship

0
8

Authors

Journals

citations
Cited by 17 publications
(11 citation statements)
references
References 4 publications
0
11
0
Order By: Relevance
“…The hiPSC cell line used in this study is not listed as a commonly misidentified cell line and it was not further characterized in‐house as it is a well‐characterized cell line (https://ebisc.org/BIONi010-C). The hiPSC cell line is derived from a skin biopsy from a healthy person where specific pathogenic mutations in the APP or presenilin‐1 ( PSEN‐1 ) gene were introduced by CRISPR‐Cas9, and has been previously characterized (Frederiksen, Holst, Mau‐Holzmann, et al., 2019; Frederiksen, Holst, Ramakrishna, et al., 2019). These hiPSC lines carry APOE3/4 alleles (https://ebisc.org/BIONi010-C), in addition, the APP cell line contains a heterozygous KM670/671NL mutation, and the PSEN‐1 cell line contains a homozygous E280A mutation (Frederiksen, Holst, Mau‐Holzmann, et al., 2019).…”
Section: Methodsmentioning
confidence: 99%
See 2 more Smart Citations
“…The hiPSC cell line used in this study is not listed as a commonly misidentified cell line and it was not further characterized in‐house as it is a well‐characterized cell line (https://ebisc.org/BIONi010-C). The hiPSC cell line is derived from a skin biopsy from a healthy person where specific pathogenic mutations in the APP or presenilin‐1 ( PSEN‐1 ) gene were introduced by CRISPR‐Cas9, and has been previously characterized (Frederiksen, Holst, Mau‐Holzmann, et al., 2019; Frederiksen, Holst, Ramakrishna, et al., 2019). These hiPSC lines carry APOE3/4 alleles (https://ebisc.org/BIONi010-C), in addition, the APP cell line contains a heterozygous KM670/671NL mutation, and the PSEN‐1 cell line contains a homozygous E280A mutation (Frederiksen, Holst, Mau‐Holzmann, et al., 2019).…”
Section: Methodsmentioning
confidence: 99%
“…org/ BIONi 010-C). The hiPSC cell line is derived from a skin biopsy from a healthy person where specific pathogenic mutations in the APP or presenilin-1 (PSEN-1) gene were introduced by CRISPR-Cas9, and has been previously characterized (Frederiksen, Holst, Mau-Holzmann, et al, 2019;Frederiksen, Holst, Ramakrishna, et al, 2019).…”
Section: Cell Linesmentioning
confidence: 99%
See 1 more Smart Citation
“…If the disease phenotype is mutation dependent all cellular disease phenotypes should be absent and thereby recued via CRISPR-Cas9 gene editing (Lee et al, 2018 ). Another option is to introduce pathogenic mutations into a “healthy” hiPSC lines to generate a cell lines that should show a phenotype similar to the patients cell lines (Frederiksen et al, 2019 ). These corrections or insertions allow for comparative studies (Zhang et al, 2017 ) (see Figure 3 ) and furthermore allow for future opportunities of patient specific therapies (Safari et al, 2020 ).…”
Section: Generating Non-immunogenic Ipscmentioning
confidence: 99%
“…Of course, the gene editing tools used to correct a mutation can easily be used to create a mutation in an otherwise healthy control iPSC line. Several groups have used this approach to generate disease models without needing patient involvement (Paquet et al, 2016;Tidball et al, 2017;Frederiksen et al, 2019), including a recent model for LDS (Gong et al, 2020). Despite the obvious practical advantages of this strategy, we should sound a note of caution.…”
Section: Gene Editing To Create Isogenic Controlsmentioning
confidence: 99%