Article
The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.
Cellular and molecular life sciences : CMLS - 25 Oct 2024
Foglia Marika, Guarrera Luca, Kurosaki Mami, Cassanmagnago Giada Andrea, Bolis Marco, Miduri Matteo, Cereseto Anna, Umbach Alessandro, Craparotta Ilaria, Fratelli Maddalena, Vallerga Arianna, Paroni Gabriela, Zanetti Adriana, Cavallaro Andrea Vincenzo, Russo Luca, Garattini Enrico, Terao Mineko
Abstract excerpt
The Cornelia de Lange syndrome (CdLS) is a rare genetic disease, which is characterized by a cohesinopathy. Mutations of the NIPBL gene are observed in 65% of CdLS patients. A novel iPSC (induced Pluripotent Stem Cell) line was reprogrammed from the leukocytes of a CdLS patient carrying a missense mutation of the NIPBL gene. A mutation-corrected isogenic iPSC-line and two iPSC-lines generated from the healthy...
Topics
- Induced Pluripotent Stem Cells
- Humans
- De Lange Syndrome
- Cell Differentiation
- Chromatin
- Cell Cycle Proteins
- Hepatocytes
- Mutation