Isogenic iPSC-derived <i>CTBP1</i> mutant neuronal cells exhibit neurodevelopmental defects.

ABSTRACT: Hypotonia, ataxia, developmental delay, and tooth enamel defects syndrome (HADDTS) is a recently identified disorder linked to a heterozygous mutation in the C-terminal Binding Protein 1 (CTBP1) transcriptional corepressor. The predominant mutation (p.R342W) is located within the major protein binding cleft (PXDLS), crucial for CtBP1's interaction with transcriptional regulatory proteins. To investigate the mutation's functional consequences, we generated isogenic induced pluripotent cell lines (iPSCs) carrying the CTBP1 mutation in heterozygous and homozygous conditions using the CRISPR/Cas9 editing method. The transcriptional profile of iPSC-derived early neurons from the isogenic wild type and CTBP1 heterozygous and homozygous mutants was determined by genome-wide R

SUBMITTER: Lee S 

PROVIDER: S-EPMC12741082 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature