Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy
Summary
TUBB2A tubulinopathy is a rare neurodevelopmental disorder with developmental delay, epilepsy, and less frequent malformations of cortical development compared to other tubulinopathies. Peripheral blood mononuclear cells (PBMCs) from a male subject harboring the heterozygous de novo TUBB2A variant c.[743C>T] (p.[Ala248Val]) were reprogrammed to induced pluripotent stem cells (iPSCs) using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). Generated iPSCs showed a normal karyotype, expression of pluripotency markers, spontaneous in vitro differentiation in all three germ layers, and are a suitable human disease model to analyze pathomechanisms underlying TUBB2A tubulinopathy and potential therapeutic targets. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Schröter J, Syring H, Göhring G, Kölker S, Opladen T, Hoffmann GF, Syrbe S, Jung-Klawitter S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Oct;64:102879 |
| PubMed | 35930870 |
| DOI | 10.1016/j.scr.2022.102879 |