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

Stem cell research - 1 Aug 2025

Lyu Hang, Haag Carolin, Schwarz Niklas, Löffler Heidi, Mau-Holzmann Ulrike A, Lerche Holger, Rosa Filip

Abstract excerpt

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 exclusively in heterozygous individuals. Here, we generated a homozygous KCNA2 R294H (c.881G > A) induced pluripotent...

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Identifiers

PMID: 40414079
DOI: 10.1016/j.scr.2025.103737

Genes

KCNA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Generation of an induced pluripotent stem cell (iPSC) line carrying a KCNA2 homozygous (p.Arg294His, R294H) mutation related to hereditary spastic paraplegia.PMID 40414079Read ↗

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