Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion

Giuseppina Conteduca; Chiara Baldo; Alessia Arado; Monica Traverso; Barbara Testa; Michela Malacarne; Domenico Coviello; Federico Zara; Simona Baldassari

doi:10.1016/j.scr.2022.103007

Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion

Stem Cell Res. 2023 Feb:66:103007. doi: 10.1016/j.scr.2022.103007. Epub 2022 Dec 21.

Authors

Giuseppina Conteduca¹, Chiara Baldo¹, Alessia Arado¹, Monica Traverso², Barbara Testa¹, Michela Malacarne¹, Domenico Coviello³, Federico Zara⁴, Simona Baldassari⁴

Affiliations

¹ Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.
² Unit of Pediatric Neurology and Muscular Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.
³ Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy. Electronic address: domenicocoviello@gaslini.org.
⁴ Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.

PMID: 36580887
DOI: 10.1016/j.scr.2022.103007

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Haploinsufficiency
Histone Methyltransferases / genetics
Histone-Lysine N-Methyltransferase / genetics
Humans
Induced Pluripotent Stem Cells* / pathology
Sotos Syndrome* / genetics
Sotos Syndrome* / pathology

Substances

Histone Methyltransferases
Histone-Lysine N-Methyltransferase