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ARADO , Alessia

Last name: ARADO

First name: Alessia

2022 (v1)

Publication

Metadata-only

Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects

Conteduca, Giuseppina Testa, Barbara Baldo, Chiara

NSD1 gene (Nuclear Receptor Binding SET Domain Protein 1) encodes a methyltransferase that plays an important role in embryonic development. NSD1 is implicated in the transcription and methylation of histone H3 at lysine 36 (H3-K36), but the molecular mechanisms involved in these processes remain largely unknown. Pathogenic variants of NSD1...

Uploaded on: January 31, 2024
2024 (v1)

Publication

Metadata-only

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

Conteduca, Giuseppina Baldo, Chiara Arado, Alessia

: 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...

Uploaded on: July 3, 2024