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.

Authors :: Schwarz N
Uysal B
Rosa F
Löffler H
Mau-Holzmann UA
Liebau S
Lerche H
Source :: Stem cell research [Stem Cell Res] 2019 May; Vol. 37, pp. 101445. Date of Electronic Publication: 2019 Apr 19.
Publication Year :: 2019
Abstract: Developmental and epileptic encephalopathies (DEE) can be caused by mutations in the KCNA2 gene, coding for the voltage-gated K+ channel K <subscript>v</subscript> 1.2. 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.<br /> (Copyright © 2019. Published by Elsevier B.V.)

Subjects :: Adult
Cells, Cultured
Cellular Reprogramming
Epilepsy pathology
Fibroblasts metabolism
Humans
Induced Pluripotent Stem Cells metabolism
Male
Neurodevelopmental Disorders pathology
Phenotype
Cell Differentiation
Epilepsy genetics
Fibroblasts pathology
Induced Pluripotent Stem Cells pathology
Kv1.2 Potassium Channel genetics
Mutation
Neurodevelopmental Disorders genetics

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