Establishment of an iPSC line from a NDD patient with a heterozygous mutation in the CTNNB1 gene
Summary
CTNNB1 encodes beta-catenin, which plays a crucial role in Wnt signaling pathway. Mutations in CTNNB1 involve in tumor developing, Primary Aldosteronism, Neurodevelopmental disorders (NDDs), etc. NDDs is a class of disorders that impact brain development and function, manifesting symptom including autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), and epilepsy. Here, we generated an iPSC line (CTUi005-A) from a patient diagnosed with NDDs, carrying a heterozygous mutation of the CTNNB1 gene. CTUi005-A exhibits typical iPSC characteristics, and holds potential as a cellular tool for investigating the pathogenic mechanisms underlying NDDs. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ning J, Zhou T, Luo X, Ma J, Zhang Z, Gao L, Zhu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jul 2;79:103487 |
| PubMed | 38972232 |
| DOI | 10.1016/j.scr.2024.103487 |