Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene


A 48-year-old female epilepsy patient of Han Chinese genetic descent carrying heterozygous mutations in PIK3R2 donated her peripheral blood mononuclear cells (PBMCs). The PBMCs were reprogrammed by the nonintegrating vector system with human OKSM transcription factors. The generated iPSCs contained congenital mutations in an exon of PIK3R2 and expressed endogenous pluripotency markers. They had a normal karyotype and were able to differentiate into all three germ layers. This new iPSC line will contribute to a better understanding of the pathology of epilepsy, enabling the identification of early biomarkers and the screening of small molecule drugs. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zhang B, Wang Y, Peng J, Hao Y, Guan Y
Journal Stem cell research
Publication Date 2020 Apr;44:101711
PubMed 32155459
DOI 10.1016/j.scr.2020.101711

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