Article
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).
Stem cell research - 1 Apr 2024
Ge Yanzhuang, Cheng Yan, Yin Tingting, Peng Xingsheng, Xiong Zhongmeng, Wu Bingbing, Wang Huijun, Xiong Man, Zhou Wenhao
Abstract excerpt
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...
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