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HIHDNEi003-A
Registration Summary
:
A
P
E
C
The cell line is
not submitted
yet.
(only basic data is shown)
General
Cell Line
hPSCreg Name
A standardised name that was automatically generated based on the cell line information. see
Naming Tool
HIHDNEi003-A
Cell line type
Human induced pluripotent stem cell (hiPSC)
Last update
23rd August 2019
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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_WN14
Wikidata
Q94208333
General Information
Publications
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.
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
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