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Stem Cell Res. 2019 Aug 21;40:101543. doi: 10.1016/j.scr.2019.101543. [Epub ahead of print]

Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.

Author information

1
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.
2
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany. Electronic address: niklas.schwarz@uni-tuebingen.de.

Abstract

De novo mutations in the KCNA2 gene, encoding the voltage-gated potassium channel KV1.2, have been identified to cause early-onset developmental and epileptic encephalopathies (DEE). KV1.2 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.

PMID:
31465893
DOI:
10.1016/j.scr.2019.101543
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