Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C)

Rachel Stewart, Cloe Gadoud, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen

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Abstract

Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies which are often caused by genetic mutations in ion channels. Mutations in KCNQ2, which encodes the voltage-gated potassium channel Kv7.2, is known to cause DEE. Here, we generated three iPSC lines from dermal fibroblasts of a 5 year-old male patient with the KCNQ2 c.881C > T (p.Ala294Val) pathogenic heterozygous variant and three iPSC lines from a healthy sibling control. These iPSC lines have been validated by SNP karyotyping, STR analysis, expression of pluripotent genes, the capacity to differentiate into three germ layers and confirmation of the mutation in the patient.

Original languageEnglish
Article number103191
JournalStem Cell Research
Volume71
DOIs
Publication statusPublished - Sep 2023

Authors (Note for portal: view the doc link for the full list of authors)

  • Authors
  • Stewart R, Gadoud C, Krawczyk J, McInerney V, OBrien T, Shen S, Allen NM

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