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 (Apr 2024)

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

Affiliations

Giuseppina Conteduca: Biotherapy Unit, IRCCS San Martino, Genoa, Italy
Chiara Baldo: Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Alessia Arado: Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Joana Soraia Martinheira da Silva: Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Barbara Testa: Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Simona Baldassari: Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Federico Zara: Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Gilberto Filaci: Biotherapy Unit, IRCCS San Martino, Genoa, Italy; Department of internal Medicine (DIMI), University of Genoa, Genoa, Italy
Domenico Coviello: Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy; Corresponding author at: Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, via Gerolamo Gaslini, 5, 16147, Genoa, Italy.
Michela Malacarne: Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy

Journal volume & issue: Vol. 76
p. 103324

Abstract

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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.

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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