Uysal Betül, Löffler Heidi, Rosa Filip, Lerche Holger, Schwarz Niklas
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.
Stem Cell Res. 2019 Oct;40:101543. doi: 10.1016/j.scr.2019.101543. Epub 2019 Aug 21.
De novo mutations in the KCNA2 gene, encoding the voltage-gated potassium channel K1.2, have been identified to cause early-onset developmental and epileptic encephalopathies (DEE). K1.2 channels conduct delayed-rectifier type K+ currents and play a crucial role in action potential repolarization. In this study we reprogrammed fibroblasts from a 6-months-old male patient with DEE carrying a de novo point mutation (c.1120A > G, p.Thr374Ala) in KCNA2 to induced pluripotent stem cells. Their pluripotency was verified by the capability to differentiate into all three germ layers and the expression of several pluripotency markers on RNA and protein levels.
编码电压门控钾通道K1.2的KCNA2基因中的新生突变已被确定可导致早发性发育性和癫痫性脑病（DEE）。K1.2通道传导延迟整流型钾离子电流，并在动作电位复极化中起关键作用。在本研究中，我们将一名患有DEE的6个月大男性患者的成纤维细胞重编程为诱导多能干细胞，该患者携带KCNA2基因的新生点突变（c.1120A > G，p.Thr374Ala）。通过分化为所有三个胚层的能力以及几种多能性标志物在RNA和蛋白质水平上的表达，验证了它们的多能性。
