Editing of <i>ADA2</i> Point Mutation in Human Hematopoietic Stem Cells

Abstract excerpt

<h4>Background</h4> The homozygous ADA2 : c.506G>A (p.Arg169Gln; p.R169Q) variant accounts for majority of Deficiency in Adenosine Deaminase 2 (DADA2). This monogenic disorder may be amenable to ex vivo gene therapy by correcting the pathogenic mutation in CD34+ hematopoietic stem and progenitor cells (HSPCs). <h4>Objective</h4> To apply CRISPR-Cas9 and homology-directed repair (HDR) as a surrogate strategy t...

Topics

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• CRISPR and Genetic Engineering
• CRISPR-Cas Systems
• Cytomegalovirus and herpesvirus research
• Gene Editing
• Genetic Heterogeneity
• Hematopoietic Stem Cells
• Mutation
• Virus-based gene therapy research

Identifiers and source

Literature Corpus work

60408e90-84ad-588b-ad8e-060c6ad05cf5

DOI

10.1101/2025.08.14.670303