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Stem Cell Res. 2019 Apr 19;37:101445. doi: 10.1016/j.scr.2019.101445. [Epub ahead of print]

Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.

Author information

1
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany. Electronic address: niklas.schwarz@uni-tuebingen.de.
2
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.
3
Department of Medical Genetics and Applied Genomics, University of Tuebingen, Germany.
4
Institute of Neuroanatomy & Developmental Biology, University of Tuebingen, Germany.

Abstract

Developmental and epileptic encephalopathies (DEE) can be caused by mutations in the KCNA2 gene, coding for the voltage-gated K+ channel Kv1.2. This ion channel belongs to the delayed rectifier class of potassium channels and plays a role during the repolarization phase of an action potential. In this study we reprogrammed fibroblasts from a 30-year-old male patient with DDE carrying a point mutation (c.890G > A, p.Arg297Gln) in KCNA2 to induced pluripotent stem cells. Pluripotency state of the cells 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:
31075689
DOI:
10.1016/j.scr.2019.101445
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