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Establishment of an iPSC line from a NDD patient with a heterozygous mutation in the CTNNB1 gene
oleh: Jiaying Ning, Tiancheng Zhou, Xianqiong Luo, Jian Ma, Zhishuai Zhang, Liwei Gao, Yanling Zhu
Format: | Article |
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Diterbitkan: | Elsevier 2024-09-01 |
Deskripsi
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.