RAS BiologyЦитология Cell and Tissue Biology

  • ISSN (Print) 0041-3771
  • ISSN (Online) 3034-6061

Development of an in vitro model of dysferlinopathy via crispr/cas-mediated transcriptional activation of the dysf gene

PII
10.31857/S0041377124040064-1
DOI
10.31857/S0041377124040064
Publication type
Article
Status
Published
Authors
Volume/ Edition
Volume 66 / Issue number 4
Pages
380-392
Abstract
Scientists need cell models from human tissues to develop methods of gene therapy and genome editing for monogenic diseases. It is preferable to use minimally invasive methods to obtain samples; these tissues can be applied for further screening in order to select the most effective approach to restore the synthesis of the target protein. We used the CRISPR/Cas9-SAM transcriptional activation system, which ensures expression of the DYSF gene in HEK293Т cells, as well as in fibroblasts from patients with dysferlinopathy (c.2779delG (Ala927LeufsX21)). After targeted activation of DYSF, it was possible to detect the main gene products: mRNA and protein (HEK293Т_ТА) and mRNA (fibroblasts). Transcriptionally activated dysferlin-deficient fibroblasts and HEK293 cells can be used to evaluate the in vitro efficacy of gene therapy for dysferlinopathies.
Keywords
миодистрофии дисферлинопатия дисферлин геномное редактирование транскрипционная активация модели заболеваний CRISPR/dCas9 фибробласты
Date of publication
15.07.2024
Year of publication
2024
Number of purchasers
0
Views
34

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