从一名患有CDKL5基因突变的患者身上生成人诱导多能干细胞（iPSC）系。
Generation of a human induced pluripotent stem cell (iPSC) line from a patient with a CDKL5 gene mutation.
作者信息
Weng Shiwen, Liu Xiang, Wang Dayan, Wang Jiaxuan, Ren Qian, Wang Qun, Shan Wei
机构信息
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, China.
Emergence Department, Qingdao Municipal Hospital, Qingdao 266000, China.
出版信息
Stem Cell Res. 2024 Dec;81:103607. doi: 10.1016/j.scr.2024.103607. Epub 2024 Nov 7.
CDKL5(Cyclin-dependent kinase-like 5) encodes a kinase that may influence components of molecular pathways associated with MeCP2 and regulates axon outgrowth, dendritic morphogenesis, and synapse formation early in life. Here, we report an induced pluripotent stem cell (iPSC) line generated from an epilepsy patient harboring the CDKL5 c.2684C > T (p.P895L) variant. Peripheral blood mononuclear cells from the patient were successfully reprogrammed into iPSCs that expressed pluripotency markers, a normal karyotype, and the capacity to differentiate into the three germ layers in vivo. This iPSC line is a potential resource for studying the pathogenic mechanisms of epilepsy.
CDKL5（细胞周期蛋白依赖性激酶样5）编码一种激酶，该激酶可能影响与MeCP2相关的分子途径的组成部分，并在生命早期调节轴突生长、树突形态发生和突触形成。在此，我们报告了一株由携带CDKL5 c.2684C>T（p.P895L）变异的癫痫患者产生的诱导多能干细胞（iPSC）系。患者的外周血单个核细胞成功重编程为表达多能性标志物、具有正常核型且能够在体内分化为三个胚层的iPSC。该iPSC系是研究癫痫致病机制的潜在资源。
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