从携带 DYRK1A 突变（c.1024G>T）的 DYRK1A 相关智力障碍综合征患者中生成人诱导多能干细胞系（FDCHi012-A）。
Generation of a human induced pluripotent stem cell line (FDCHi012-A) from a patient with DYRK1A-related intellectual disability syndrome carrying DYRK1A mutation (c.1024G > T).
机构信息
Institutes of Biomedical Sciences, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai 200032, China; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai 200032, China.
出版信息
Stem Cell Res. 2024 Apr;76:103345. doi: 10.1016/j.scr.2024.103345. Epub 2024 Feb 11.
DYRK1A haploinsufficiency causes a neurodevelopmental syndrome termed DYRK1A-related intellectual disability syndrome which is associated with a range of symptoms including microcephaly, epileptic seizures, and autism spectrum disorder. Here, we generated an induced Pluripotent Stem Cell (iPSC) line with a de novo missense mutation (DYRKIA c.1024G > T) from the peripheral blood mononuclear cells of a patient with DYRK1A-related intellectual disability syndrome. This iPSC line showed normal karyotype, exhibited pluripotency, and has three embryonic germ layers differentiation capacity. This iPSC line will be of great use in investigating the disease mechanisms and drug screening for patients with DYRK1A-related intellectual disability syndrome.
DYRK1A 基因杂合缺失会导致一种称为 DYRK1A 相关智力残疾综合征的神经发育综合征，其与一系列症状相关，包括小头畸形、癫痫发作和自闭症谱系障碍。在这里，我们从 DYRK1A 相关智力残疾综合征患者的外周血单核细胞中生成了一个具有从头错义突变（DYRKIA c.1024G>T）的诱导多能干细胞（iPSC）系。该 iPSC 系具有正常核型，表现出多能性，并具有三个胚胎生殖层分化能力。该 iPSC 系将非常有助于研究疾病机制和为 DYRK1A 相关智力残疾综合征患者进行药物筛选。
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