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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.
This article was published in the following journal.
Name: Stem cell research
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that is characterized by severe visual impairment in early infancy. We generated a human induced pluripotent stem cell (hiPSC) line, ...
FOXA2 is a transcription factor, playing an important role during development. We established an induced pluripotent stem cell (iPSC) line, QBRIi009-A, using non-integrating Sendai virus from a 4-year...
Dermal fibroblasts obtained from a 43-year-old healthy man were successfully transformed into induced pluripotent stem cells (iPSCs) by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28...
The coronary slow flow phenomenon (CSFP) is characterized by delayed progression of the injected contrast medium through the coronary tree during coronary angiography due to unknown mechanisms. Here, ...
Human induced pluripotent stem cells (hiPSCs) from individual patient basis are considered a powerful resource to model human diseases. However, to study complex multigenic diseases such as Congenital...
Induced pluripotent stem cells potentially may be useful in the future as an unlimited source of cells for transplantation. The major goal of the project is to develop human iPS cells fro...
In order to study the transplantation effect of hematopoetic stem cells from beta-thalassemia induced pluripotent stem cells. We applied clinical grade source of autologous hematopoietic s...
Human induced pluripotent stem cells (iPSCs), are reprogrammed from somatic cells that can self-renew indefinitely and produce different types of cells. They provide human model cell lines...
Human induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhance...
Establishment of individualized human cellular disease models based on induced pluripotent stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease
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.
Track and monitor developments in stem cell research and commercial development. Follow the tabs above to read the latest global news, research, clinical trials on stem cells and follow companies active in the stem cell industry. BioPort...
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...