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Article

Generation of a human induced pluripotent stem cell (iPSC) line from a patient with a CDKL5 gene mutation.

Stem cell research - 1 Dec 2024

Weng Shiwen, Liu Xiang, Wang Dayan, Wang Jiaxuan, Ren Qian, Wang Qun, Shan Wei

Abstract excerpt

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...

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Identifiers

PMID: 39541770
DOI: 10.1016/j.scr.2024.103607

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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