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

Stem Cell Res

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, China. Electronic address:

Published: December 2024

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.

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http://dx.doi.org/10.1016/j.scr.2024.103607DOI Listing

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