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.

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

Journal

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

Informations de publication

Date de publication:
05 2019
Historique:
received: 22 03 2019
revised: 12 04 2019
accepted: 18 04 2019
pubmed: 11 5 2019
medline: 12 3 2020
entrez: 11 5 2019
Statut: ppublish

Résumé

Developmental and epileptic encephalopathies (DEE) can be caused by mutations in the KCNA2 gene, coding for the voltage-gated K+ channel K

Identifiants

DOI: 10.1016/j.scr.2019.101445 PMID: 31075689
pubmed: 31075689
pii: S1873-5061(19)30075-3
doi: 10.1016/j.scr.2019.101445
pii:
doi:

Substances chimiques

KCNA2 protein, human 0
Kv1.2 Potassium Channel 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

101445

Informations de copyright

Copyright © 2019. Published by Elsevier B.V.

Auteurs

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.

Betül Uysal (B)

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.

Heidi Löffler (H)

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

Ulrike A Mau-Holzmann (UA)

Department of Medical Genetics and Applied Genomics, University of Tuebingen, Germany.

Stefan Liebau (S)

Institute of Neuroanatomy & Developmental Biology, University of Tuebingen, Germany.

Holger Lerche (H)

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

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Establishment of a human induced pluripotent...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Différenciation cellulaire › Establishment of a human induced pluripotent...
questionsmedicales.fr › Cellules › Cellules cultivées › Establishment of a human induced pluripotent...
questionsmedicales.fr › Phénomènes génétiques › Reprogrammation cellulaire › Establishment of a human induced pluripotent...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Establishment of a human induced pluripotent...
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › Establishment of a human induced pluripotent...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Establishment of a human induced pluripotent...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Establishment of a human induced pluripotent...
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 › Establishment of a human induced pluripotent...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Establishment of a human induced pluripotent...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Establishment of a human induced pluripotent...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Establishment of a human induced pluripotent...