Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion
Summary
Sotos syndrome (SoS) is a neurodevelopmental disorder caused by haploinsufficiency of the NSD1 gene located on chromosome 5 region q35.3. In order to understand the pathogenesis of Sotos syndrome and in view of future therapeutic approaches for its efficient treatment, we generated two human induced pluripotent stem cells (iPSCs) lines from one SoS patient carrying a 5q35 microdeletion. The established iPSCs expressed pluripotency markers, showing the capacity to differentiate into the three germ layers. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Conteduca G, Baldo C, Arado A, Traverso M, Testa B, Malacarne M, Coviello D, Zara F, Baldassari S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Feb;66:103007 |
| PubMed | 36580887 |
| DOI | 10.1016/j.scr.2022.103007 |