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

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

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....

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Main Authors: Betül Uysal, Heidi Löffler, Filip Rosa, Holger Lerche, Niklas Schwarz
Format: Article
Language:English
Published: Elsevier 2019-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119301734
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spelling doaj-c05d69d6e64e48ea8d916ae25f8c3fb92020-11-24T21:44:15ZengElsevierStem Cell Research1873-50612019-10-0140Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutationBetül Uysal0Heidi Löffler1Filip Rosa2Holger Lerche3Niklas Schwarz4Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, GermanyDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, GermanyDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, GermanyDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, GermanyCorresponding author.; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, GermanyDe 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.http://www.sciencedirect.com/science/article/pii/S1873506119301734
collection DOAJ
language English
format Article
sources DOAJ
author Betül Uysal
Heidi Löffler
Filip Rosa
Holger Lerche
Niklas Schwarz
spellingShingle Betül Uysal
Heidi Löffler
Filip Rosa
Holger Lerche
Niklas Schwarz
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
Stem Cell Research
author_facet Betül Uysal
Heidi Löffler
Filip Rosa
Holger Lerche
Niklas Schwarz
author_sort Betül Uysal
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-10-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506119301734
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AT heidiloffler generationofaninducedpluripotentstemcellipsclinehihdnei003afromapatientwithdevelopmentalandepilepticencephalopathycarryingakcna2pthr374alamutation
AT filiprosa generationofaninducedpluripotentstemcellipsclinehihdnei003afromapatientwithdevelopmentalandepilepticencephalopathycarryingakcna2pthr374alamutation
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