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Article

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

Stem cell research - 1 Apr 2020

Zhang Bei, Wang Yishu, Peng Jing, Hao Yong, Guan Yangtai

Abstract excerpt

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...

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Identifiers

PMID: 32155459
DOI: 10.1016/j.scr.2020.101711

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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