Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis
Human SCs play a primary role in SWN, a rare genetic disorder in which patients develop multiple schwannomas. So that, their isolation and immortalization could represent an irreplaceable tool to investigate the disease etiopathology. Although few clones of tumoural SCs have been obtained, unfortunately they present genetic, morphological and biological characteristics that do not fully represent the original cells. Herein we isolated, characterized and immortalized primary SCs from human schwannomas. Our immortalized human SCs present typical <i>NF2</i> and <i>LTZR1</i> genetic mutations of SWN and retain original phenotype characteristics, representing a valuable tool for further genetic, functional and biomolecular <i>in vitro</i> studies.
Authors
- Valerio Magnaghi (ORCID: https://orcid.org/0000-0002-6903-7042)
- Alessandra Colciago (ORCID: https://orcid.org/0000-0001-6281-514X)
- Eva Trevisson (ORCID: https://orcid.org/0000-0002-5380-6265)
- Stefano Ferraresi (ORCID: https://orcid.org/0000-0003-2688-4660)
- Valentina Melfi (ORCID: https://orcid.org/0000-0001-5289-9618)
- Daniela Bettio (ORCID: https://orcid.org/0000-0003-2843-9958)
- Alessandra Fasciani (ORCID: https://orcid.org/0000-0001-9127-4821)
- Marco Montini (ORCID: https://orcid.org/0000-0001-8407-0740)
- Raffaele De Francesco (ORCID: https://orcid.org/0000-0001-8754-5123)
- Laura Papi (ORCID: https://orcid.org/0000-0003-4552-9517)
- Marica Eoli (ORCID: https://orcid.org/0000-0003-4744-9377)
- Tasnim Mohamed (ORCID: https://orcid.org/0000-0002-1144-4876)
- Francesca Boaretto (ORCID: https://orcid.org/0000-0003-2015-929X)
- Cristina Cerqua
- Elisabetta Basso
Institutions
- University of Milan (IT)
- Human Technopole (IT)
- Children's & Women's Health Centre of British Columbia (CA)
- Ospedale Santa Maria della Misericordia di Rovigo (IT)
- Istituto Nazionale Genetica Molecolare (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University of Florence (IT)
Publication Details
- Journal
- Heliyon
- Published
- 2024-10-01
- DOI
- https://doi.org/10.1016/j.heliyon.2024.e38957
- Citations
- 2
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.74
Funders
- Università degli Studi di Milano
- Ministero dell’Istruzione, dell’Università e della Ricerca