从 CTNNB1 基因杂合突变的 NDD 患者中建立 iPSC 系。
Establishment of an iPSC line from a NDD patient with a heterozygous mutation in the CTNNB1 gene.
发表日期：2024 Jul 02
作者：
Jiaying Ning, Tiancheng Zhou, Xianqiong Luo, Jian Ma, Zhishuai Zhang, Liwei Gao, Yanling Zhu
来源：
BIOMEDICINE & PHARMACOTHERAPY
摘要：
CTNNB1编码β-连环蛋白，在Wnt信号通路中起着至关重要的作用。 CTNNB1突变涉及肿瘤发生、原发性醛固酮增多症、神经发育障碍（NDD）等。NDD是一类影响大脑发育和功能的疾病，其表现的症状包括自闭症谱系障碍（ASD）、智力障碍（ID）、精神分裂症等。 SCZ）和癫痫。在这里，我们从一名被诊断患有 NDD 的患者中生成了一个 iPSC 系 (CTUi005-A)，该患者携带 CTNNB1 基因的杂合突变。 CTUi005-A 表现出典型的 iPSC 特征，并具有作为研究 NDD 致病机制的细胞工具的潜力。版权所有 © 2024 作者。由 Elsevier B.V. 出版。保留所有权利。
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.