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

doi:10.1016/j.scr.2024.103324

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 Res. 2024 Apr:76:103324. doi: 10.1016/j.scr.2024.103324. Epub 2024 Jan 29.

Affiliations

¹ Biotherapy Unit, IRCCS San Martino, Genoa, Italy.
² Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.
³ Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.
⁴ Biotherapy Unit, IRCCS San Martino, Genoa, Italy; Department of internal Medicine (DIMI), University of Genoa, Genoa, Italy.
⁵ Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy. Electronic address: [email protected].

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

Abstract

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.

MeSH terms

Craniosynostoses*
Exons
Histone-Lysine N-Methyltransferase / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Intellectual Disability*
Mutation
Sotos Syndrome* / genetics
Sotos Syndrome* / metabolism
Sotos Syndrome* / pathology

Substances

NSD1 protein, human
Histone-Lysine N-Methyltransferase

Supplementary concepts

Opitz trigonocephaly syndrome