Generation of a human induced pluripotent stem cell (iPSC) line from a patient with a CDKL5 gene mutation
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.
Authors
- SY Weng
- Qian Ren (ORCID: https://orcid.org/0000-0001-5729-8264)
- Qun Wang (ORCID: https://orcid.org/0000-0002-5946-2918)
- Xiang Liu (ORCID: https://orcid.org/0000-0003-3190-4814)
- Jiaxuan Wang (ORCID: https://orcid.org/0000-0003-0902-591X)
- Wei Shan (ORCID: https://orcid.org/0000-0002-8616-2670)
- Dayan Wang (ORCID: https://orcid.org/0000-0002-4990-1016)
Institutions
- Qingdao University (CN)
- Hebei Medical University (CN)
- Capital Medical University (CN)
- Beijing Tian Tan Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- Qingdao Municipal Hospital (CN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-11-07
- DOI
- https://doi.org/10.1016/j.scr.2024.103607
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Education of the People's Republic of China
- Natural Science Foundation of Hebei Province
- Natural Science Foundation of Beijing Municipality
- Capital Health Research and Development of Special Fund
- National Key Research and Development Program of China