Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with an <i>IRAK1-MECP2</i> duplication.

ABSTRACT: Recent progress in genome editing technologies has catalyzed the generation of sophisticated cell models; however, the precise modeling of copy-number variation (CNV) diseases remains a significant challenge despite their substantial prevalence in the human population. To overcome this barrier, we have explored the utility of HAP1 cells for the accurate modeling of disease genomes with large structural variants. As an example, this study details the strategy to generate a novel cell line that serves as a model for the neurological disorder methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS), featuring the critical duplication of both the MECP2 and IRAK1 genes. This model faithfully recapitulates MDS genomic rearrangement, allowing for the mechanistic study of gene

SUBMITTER: Rizvi SZ 

PROVIDER: S-EPMC11539574 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature