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

Stem cell research - 1 Apr 2024

Conteduca Giuseppina, Baldo Chiara, Arado Alessia, da Silva Joana Soraia Martinheira, Testa Barbara, Baldassari Simona, Zara Federico, Filaci Gilberto, Coviello Domenico, Malacarne Michela

Abstract excerpt

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...

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Identifiers

PMID: 38301425
DOI: 10.1016/j.scr.2024.103324

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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