Generation of induced pluripotent stem cell lines from a patient withKCNQ2-developmental and epileptic encephalopathy pathogenic variant c.783A > C; p.Phe261Leu, and a sibling control.

Authors

Rachel Stewart, Cloe Gadoud, Janusz Krawczyk, Veronica McInerney, Sanbing Shen, Nicholas M Allen

Published in

Stem cell research. Volume 95. Pages 104081. Aug 13, 2026. Epub Aug 13, 2026.

Abstract

De novo pathogenic variants in KCNQ2 are a well-established cause of neurodevelopmental disorders, particularly developmental and epileptic encephalopathies. The KCNQ2 gene encodes the Kv7.2 subunit of a voltage-gated potassium channel that mediates the neuronal M-current and plays a key role in stabilizing the resting membrane potential. In this study, we established three induced pluripotent stem cell (iPSC) lines from dermal fibroblasts from a 4-year-old female patient carrying the KCNQ2 c.783A > C; p.Phe261Leu variant and a sibling control. These lines were characterized using standard validation methods, including confirmation of the pathogenic variant, SNP-based karyotyping, STR profiling, assessment of pluripotency marker expression, and evaluation of trilineage differentiation potential.

PMID:
42603519
Bibliographic data and abstract were imported from PubMed on 16 Aug 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.