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

Julian Schröter; Hanna Syring; Gudrun Göhring; Stefan Kölker; Thomas Opladen; Georg F. Hoffmann; Steffen Syrbe; Sabine Jung-Klawitter

Stem Cell Research (Oct 2022)

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

Julian Schröter,
Hanna Syring,
Gudrun Göhring,
Stefan Kölker,
Thomas Opladen,
Georg F. Hoffmann,
Steffen Syrbe,
Sabine Jung-Klawitter

Affiliations

Julian Schröter: Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
Hanna Syring: Department of Human Genetics, Hannover Medical School (MHH), 30625 Hannover, Germany
Gudrun Göhring: Department of Human Genetics, Hannover Medical School (MHH), 30625 Hannover, Germany
Stefan Kölker: Division of Neuropediatrics and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
Thomas Opladen: Division of Neuropediatrics and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
Georg F. Hoffmann: Division of Neuropediatrics and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
Steffen Syrbe: Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
Sabine Jung-Klawitter: Division of Neuropediatrics and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany; Corresponding author at: Division of Neuropediatrics and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany

Journal volume & issue: Vol. 64
p. 102879

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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