Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis

典型的 NF2 和 LTZR1 突变在永生化的人类神经鞘瘤细胞模型中得到保留

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作者:Valentina Melfi, Tasnim Mohamed, Alessandra Colciago, Alessandra Fasciani, Raffaele De Francesco, Daniela Bettio, Cristina Cerqua, Francesca Boaretto, Elisabetta Basso, Stefano Ferraresi, Marco Montini, Marica Eoli, Laura Papi, Eva Trevisson, Valerio Magnaghi

Abstract

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 NF2 and LTZR1 genetic mutations of SWN and retain original phenotype characteristics, representing a valuable tool for further genetic, functional and biomolecular in vitro studies.

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