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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2022.103007 | DOI Listing |
Publication Analysis
Top Keywords
sotos syndrome
12
induced pluripotent
8
pluripotent stem
8
carrying 5q35
8
5q35 microdeletion
8
generation induced
4
stem cell
4
cell lines
4
lines patient
4
patient sotos
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!