Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother
Summary
Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy and intellectual disability who carry a homozygous single-base duplication in exon 12 of KCNQ3 (NM_004519.3: KCNQ3 c.1599dup; KCNQ3 p.PHE534ILEfs*15), and from a non-carrier brother of the proband. For iPSC generation, non-integrating episomal plasmid vectors were used to transfect fibroblasts isolated from skin biopsies. The obtained iPSC lines had a normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and possessed trilineage differentiation potential. Copyright © 2021. Published by Elsevier B.V.
| Authors | Longobardi E, Miceli F, Secondo A, Cicatiello R, Izzo A, Tinto N, Moutton S, Tran Mau-Them F, Vitobello A, Taglialatela M |
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| Journal | Stem cell research |
| Publication Date | 2021 May;53:102311 |
| PubMed | 33799276 |
| DOI | 10.1016/j.scr.2021.102311 |