Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy

Stem Cell Res. 2022 Oct:64:102879. doi: 10.1016/j.scr.2022.102879. Epub 2022 Jul 29.

Abstract

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.

Keywords: TUBB2A; Tubulinopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cellular Reprogramming
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Inducible T-Cell Co-Stimulator Protein / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Male
  • Tubulin

Substances

  • Inducible T-Cell Co-Stimulator Protein
  • TUBB2A protein, human
  • Tubulin