Correction of Griscelli Syndrome Type 2 causing mutations in the RAB27A gene with CRISPR/Cas9.

ABSTRACT:

Background/aim

Griscelli Syndrome Type 2 (GS-2) is a rare, inherited immune deficiency caused by a mutation in the RAB27A gene. The current treatment consists of hematopoietic stem cell transplantation, but a lack of suitable donors warrants the development of alternative treatment strategies, including gene therapy. The development of mutation-specific clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 gene editing technology has opened the way for custom-designed gene correction of patient-derived stem cells. In this study, we aimed to custom design CRISPR/Cas9 constructs and test their efficiency on homology-directed repair (HDR) on the correction of exon 3 and exon 7 mutations in the RAB27A gene of GS-2 patient-derived mesenchymal stem cells (MSCs)

SUBMITTER: Erol OD 

PROVIDER: S-EPMC11518329 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature