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).

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 confir-mation of the mutation in the patient.