从携带ADNP突变（c. 2059 T>C）的ADNP综合征患者中生成人诱导多能干细胞系（FDIBSi001-A）。
Generation of a human induced pluripotent stem cell line (FDIBSi001-A) from a patient with ADNP syndrome carrying ADNP mutation (c. 2059 T>C).
作者信息
Mengnan Wu, Yan Cheng, Qiong Xu, Man Xiong
机构信息
Institute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai 200032, China.
State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China.
出版信息
Stem Cell Res. 2024 Dec;81:103550. doi: 10.1016/j.scr.2024.103550. Epub 2024 Sep 11.
ADNP syndrome is a neurodevelopmental disorder characterized by autism, intellectual disability, and other physical and behavioral health manifestations. Mutations in ADNP gene is responsible for ADNP syndrome. A human iPSC line with a de novo heterozygous ADNP mutation (ADNP c. 2059 T>C) was generated from peripheral blood mononuclear cells of a patient with ADNP syndrome. This iPSC line showed typical human embryonic stem cell-like morphology, normal karyotype, pluripotency, and ability to differentiate into three germ layers. This iPSC line provides a useful resource to study the pathogenesis and drug screening of ADNP syndrome.
ADNP综合征是一种神经发育障碍，其特征为自闭症、智力残疾以及其他身体和行为健康表现。ADNP基因突变是导致ADNP综合征的原因。从一名ADNP综合征患者的外周血单个核细胞中生成了具有新生杂合ADNP突变（ADNP c. 2059 T>C）的人诱导多能干细胞系。该诱导多能干细胞系表现出典型的人类胚胎干细胞样形态、正常核型、多能性以及分化为三个胚层的能力。该诱导多能干细胞系为研究ADNP综合征的发病机制和药物筛选提供了有用的资源。
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