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Literature Report

Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.

Giuseppina Conteduca | Chiara Baldo | Alessia Arado | Joana Soraia Martinheira da Silva | Barbara Testa | Simona Baldassari | Federico Zara | Gilberto Filaci | Domenico Coviello | Michela Malacarne
Stem cell research | 2024

Sotos syndrome (SoS) is a neurodevelopmental disorder that results from NSD1 mutations that cause haploinsufficiency of NSD1. Here, we generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a SoS patient carrying the pathogenic variant (c.1633delA). The cell line shows typical iPSC morphology, high expression of pluripotent markers, normal karyotype, and it differentiates into three germ layers in vitro. This line is a valuable resource for studying pathological pathways involved in SoS.

Pubmed ID: 38301425

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