Targeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENs

Park, Chul‐Yong; Kim, Jung-Eun; Kweon, Jiyeon; Son, Jeong Sang; Lee, Jae Souk; Yoo, Jeong Eun; Cho, Sung Rae; Kim, Jong Hoon; Kim, Dong Wook

doi:10.1073/pnas.1323941111

Cited by 124 publications

(85 citation statements)

References 56 publications

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“…Potential off-target sites were computationally searched using Cas-OFFinder (http://www.rgenome.net/; Bae et al, 2014a). Human iPSCs and ESCs were pulsed with Cas9 and sgRNA-encoding plasmids as previously described (Park et al, 2014).…”

Section: Cas9-encoding Plasmid and Transfectionsmentioning

confidence: 99%

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

et al. 2015

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Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Here, we report a strategy for CGG repeat correction using CRISPR/Cas9 for targeted deletion in both embryonic stem cells and induced pluripotent stem cells derived from FXS patients. Following gene correction in FXS induced pluripotent stem cells, FMR1 expression was restored and sustained in neural precursor cells and mature neurons. Strikingly, after removal of the CGG repeats, the upstream CpG island of the FMR1 promoter showed extensive demethylation, an open chromatin state, and transcription initiation. These results suggest a silencing maintenance mechanism for the FMR1 promoter that is dependent on the existence of the CGG repeat expansion. Our strategy for deletion of trinucleotide repeats provides further insights into the molecular mechanisms of FXS and future therapies of trinucleotide repeat disorders.

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Section: Cas9-encoding Plasmid and Transfectionsmentioning

confidence: 99%

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

et al. 2015

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“…to mutate multiple genes at once or to engineer precise deletions in a genomic region, although it should be noted that simultaneous use of multiple ZFN or TALEN pairs can achieve the same outcomes (52).…”

Section: Genome Editing In Mammalian Modelsmentioning

confidence: 99%

Expanding the genetic editing tool kit: ZFNs, TALENs, and CRISPR-Cas9

Gupta¹,

Musunuru²

2014

J. Clin. Invest.

401

304

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“…Further, in 2013, Anguela et al [48] demonstrated successful correction of defective human F9 (hF9) gene using a ZFN pair to target the and AAV as the delivery vector in mouse genome. Further TALENs were also used and shown to be able to correct haemophilia gene [49]. In recent years, modified nuclease like CRISPR-Cas9 technology has been successfully applied to correct bthalassaemia mutations in patient-derived induced pluripotent stem cells (iPSCs) [27,50,51].…”

Section: Hemophiliamentioning

confidence: 99%

Application of CRISPR/Cas9 Genome Editing in Genetic Disorders: A Systematic Review Up to Date

Pandey¹,

Tripathi²,

Bhushan³

et al. 2017

J Genet Syndr Gene Ther

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Genetic diseases in human are associated with congenital disorders and phenotypic traits. A single mutation in a gene can cause physical or mental problems, and sometimes both. Some diseases can be lethal, and there are still no cures for many of them. Socioeconomic burden of rare genetic diseases are increasing worldwide that have been tried to cure using various methods. However, they were not very successful till now. Genome editing technologies over the past few years is providing fast and effective tool to precisely manipulate the genome at specific locations. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) associated Cas9 (CRISPR/Cas9) system has been using from last few years in the field of biomedical research. CRISPR/Cas9 has advantages in terms of clinical applicability to treat genetic diseases like DMD, Hemophilia, β-Thalassemia and cystic fibrosis etc. and even in some cases this tool has already been successfully applied. Nevertheless, developed technologies for addition or deletion of genes have made notable progress in last few years and demonstrate some promising clinical results. However, several challenges still remain. Here, the latest applications of CRISPR-Cas9 technology in genetic disorders, current challenges and future directions are reviewed and discussed.

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Targeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENs

Cited by 124 publications

References 56 publications

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

Expanding the genetic editing tool kit: ZFNs, TALENs, and CRISPR-Cas9

Application of CRISPR/Cas9 Genome Editing in Genetic Disorders: A Systematic Review Up to Date

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