AI Article Synopsis
- * Scientists reprogrammed the patient's blood cells into induced pluripotent stem cells (iPSCs) using a virus-based method, confirming the cells' ability to become any cell type.
- * This iPSC model is expected to help researchers understand Kleefstra syndrome better and may aid in drug testing, finding early biomarkers, and developing gene therapies.
Article Abstract
Peripheral blood was collected from a clinically characterized female Kleefstra syndrome patient with a heterozygous, de novo, premature termination codon (PTC) mutation (NM_024757.4(EHMT1):c.3413G>A; p.Trp1138Ter). Peripheral blood mononuclear cells (PBMCs) were reprogrammed with the human OSKM transcription factors using the Sendai-virus (SeV) delivery system. The pluripotency of transgene-free iPSC line was verified by the expression of pluripotency-associated markers and by in vitro spontaneous differentiation towards the 3 germ layers. Furthermore, the iPSC line showed normal karyotype. Our model might offer a good platform to study the pathomechanism of Kleefstra syndrome, also for drug testing, early biomarker discovery and gene therapy studies.
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| http://dx.doi.org/10.1016/j.scr.2016.09.031 | DOI Listing |
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