Laboratory study demonstrates successful generation of patient-derived iPSC lines carrying a KCNQ2 pathogenic variant, providing cellular models for neurodevelopmental disease.
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.
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Stewart et al. (2026) studied this question.
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