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.

Cell Differentiation Cell Line Cellular Reprogramming Epilepsy / genetics Fibroblasts / cytology Humans Induced Pluripotent Stem Cells / cytology Infant Kv1.2 Potassium Channel / genetics Male Polymorphism, Single Nucleotide

Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
10 2019
Historique:
received: 25 06 2019
revised: 15 08 2019
accepted: 19 08 2019
pubmed: 30 8 2019
medline: 1 5 2020
entrez: 30 8 2019
Statut: ppublish

Résumé

De novo mutations in the KCNA2 gene, encoding the voltage-gated potassium channel K

Identifiants

DOI: 10.1016/j.scr.2019.101543 PMID: 31465893
pubmed: 31465893
pii: S1873-5061(19)30173-4
doi: 10.1016/j.scr.2019.101543
pii:
doi:

Substances chimiques

KCNA2 protein, human 0
Kv1.2 Potassium Channel 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

101543

Informations de copyright

Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Auteurs

Betül Uysal (B)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.

Heidi Löffler (H)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.

Filip Rosa (F)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.

Holger Lerche (H)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.

Niklas Schwarz (N)

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

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Classifications MeSH

questionsmedicales.fr › Phénomènes physiologiques cellulaires › Différenciation cellulaire › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Cellules › Cellules cultivées › Lignée cellulaire › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Phénomènes génétiques › Reprogrammation cellulaire › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux potassiques › Canaux potassiques voltage-dépendants › Canaux potassiques de la superfamille Shaker › Canal potassique Kv1.2 › Generation of an induced pluripotent stem cell...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Generation of an induced pluripotent stem cell...