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

07:00 EST 21st January 2020 | BioPortfolio

Summary of "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.


Journal Details

This article was published in the following journal.

Name: Stem cell research
ISSN: 1876-7753
Pages: 101711


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Medical and Biotech [MESH] Definitions

Procedures used for the induction of CELLULAR REPROGRAMMING to change the terminal phenotype of a cell, such as the generation of INDUCED PLURIPOTENT STEM CELLS from differentiated adult cells by the forced expression of specific genes.

The malignant stem cells of TERATOCARCINOMAS, which resemble pluripotent stem cells of the BLASTOCYST INNER CELL MASS. The EC cells can be grown in vitro, and experimentally induced to differentiate. They are used as a model system for studying early embryonic cell differentiation.

The process that reverts CELL NUCLEI of fully differentiated somatic cells to a pluripotent or totipotent state. This process can be achieved to a certain extent by NUCLEAR TRANSFER TECHNIQUES, such as fusing somatic cell nuclei with enucleated pluripotent embryonic stem cells or enucleated totipotent oocytes. GENE EXPRESSION PROFILING of the fused hybrid cells is used to determine the degree of reprogramming. Dramatic results of nuclear reprogramming include the generation of cloned mammals, such as Dolly the sheep in 1997.

Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS.

A type of PLURIPOTENT STEM CELLS derived from early stage human embryos, up to and including the BLASTOCYST stage.

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Epilepsy is defined as a disorder of brain function characterized by recurrent seizures that have a sudden onset.  (Oxford Medical Dictionary).  A seizure is caused by a sudden burst of excess electrical activity in the brain, causing a tempora...

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