Generation of an induced pluripotent stem cell (iPSC) line carrying a KCNA2 homozygous (p.Arg294His, R294H) mutation related to hereditary spastic paraplegia

Generation of an induced pluripotent stem cell (iPSC) line carrying a KCNA2 homozygous (p.Arg294His, R294H) mutation related to hereditary spastic paraplegia

The KCNA2 gene encodes the voltage-gated potassium channel Kv1.2, which is essential for repolarization of action potential. The R294H variant in KCNA2 represents the only potassium channel gene variant linked to hereditary spastic paraplegia (HSP) to date. However, this variant has been observed ex...

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Bibliographic Details
Main Authors: Hang Lyu, Carolin Haag, Niklas Schwarz, Heidi Löffler, Ulrike A. Mau-Holzmann, Holger Lerche, Filip Rosa
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612500087X
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