Generation of a Human Induced Pluripotent Stem Cell (iPSC) Line from a Patient with a CDKL5 Gene Mutation
Abstract number :
3.203
Submission category :
2. Translational Research / 2B. Devices, Technologies, Stem Cells
Year :
2024
Submission ID :
428
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Shiwen Weng, Undergraduate – Bejing Tiantan Hospital
Qian Ren, PhD – Department of Human Anatomy, Hebei Medical University
Qun Wang, MD – Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China
Wei Shan, PhD – Beijing Tiantan Hospital
Rationale: 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.
Methods: we report an induced pluripotent stem cell (iPSC) line generated from an epilepsy patient harboring the CDKL5 c.2684 C >T (p.P895L) variant.
Results: 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.
Conclusions: This iPSC line is a potential resource for studying the pathogenic mechanisms of epilepsy.
Funding: This work was supported by the National Key R&D Program of China grant (2022YFC2503800), the Beijing Natural Science Foundation (7232045 and Z200024), and the Capital Health Research and Development of Special grants (2020-1-2013). Hundred Talents Program of Hebei Province (E2019050019), Hebei Provincial Natural Science Foundation Precision Medicine Joint Fund Cultivation Project(H2022206562), Key laboratory of Neural and Vascular Biology, Ministry of Education of China (NV20230011).
Translational Research