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Rapid Communication | Open Access

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants

Kévin Cassinaria( ), Anne Rovelet-Lecruxa, Céline Deramburea, Myriam Vezaina, Sophie Coutanta, Anne-Claire Richarda, Nathalie Drouota, Juliette Coursimaulta, Gabriella Veraa, Alice Goldenberga, Pascale Saugier-Vebera, Camille Charbonnierb, Gaël Nicolasa( )
Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen F-76000, France
Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Biostatistics, F-76000 Rouen, France

Peer review under the responsibility of the Genes & Diseases Editorial Office, in alliance with the Association of Chinese Americans in Cancer Research (ACACR, Baltimore, MD, USA).

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Genes & Diseases
Volume 12 Issue 3,
May 2025
Article number: 101386
DOI: 10.1016/j.gendis.2024.101386

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Cassinari K, Rovelet-Lecrux A, Derambure C, et al. Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants. Genes & Diseases, 2025, 12(3): 101386. https://doi.org/10.1016/j.gendis.2024.101386

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Received: 23 January 2024
Published: 06 August 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).