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

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

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 homozygo...

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Bibliographic Details
Main Authors: Elena Longobardi, Francesco Miceli, Agnese Secondo, Rita Cicatiello, Antonella Izzo, Nadia Tinto, Sebastien Moutton, Frédéric Tran Mau-Them, Antonio Vitobello, Maurizio Taglialatela
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121001574

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http://www.sciencedirect.com/science/article/pii/S1873506121001574

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