HIHDNEi002-A

Registration Summary:

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General

Cell Line
hPSCreg Name	HIHDNEi002-A
Cell line type	Human induced pluripotent stem cell (hiPSC)
Last update	28th May 2018
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Provider
Generator	Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen (HIHDNE)
External Databases
Cellosaurus	CVCL_WN13
Wikidata	Q94208329
General Information
Publications	Schwarz N et al. 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. Stem cell research. 2019 May;37:101445. Uysal B et al. 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. 2019 Oct;40:101543. D'Adamo MC et al. Ion Channels Involvement in Neurodevelopmental Disorders. Neuroscience. 2020 Aug 1;440:337-359. Hirose S et al. Application of induced pluripotent stem cells in epilepsy. Molecular and cellular neurosciences. 2020 Oct;108:103535. Döring JH et al. Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. International journal of molecular sciences. 2021 Mar 10;22(6). Imbrici P et al. A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine. International journal of molecular sciences. 2021 Sep 14;22(18). Weng OY et al. Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway. Frontiers in molecular neuroscience. 2022;15:810081.

hIPSC Derivation

General