Melfi Valentina, Mohamed Tasnim, Colciago Alessandra, Fasciani Alessandra, De Francesco Raffaele, Bettio Daniela, Cerqua Cristina, Boaretto Francesca, Basso Elisabetta, Ferraresi Stefano, Montini Marco, Eoli Marica, Papi Laura, Trevisson Eva, Magnaghi Valerio
Dept. of Pharmacological and Biomolecular Science "R. Paoletti" Università degli Studi di Milano, Italy.
Human Technopole, Milan, Italy.
Heliyon. 2024 Oct 4;10(19):e38957. doi: 10.1016/j.heliyon.2024.e38957. eCollection 2024 Oct 15.
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 and genetic mutations of SWN and retain original phenotype characteristics, representing a valuable tool for further genetic, functional and biomolecular studies.
人类雪旺细胞在施万细胞瘤（SWN）中起主要作用，SWN是一种罕见的遗传性疾病，患者会出现多发性神经鞘瘤。因此，它们的分离和永生化可能是研究该疾病病因病理学的一种不可替代的工具。尽管已经获得了少数肿瘤性雪旺细胞克隆，但不幸的是，它们呈现出的遗传、形态和生物学特征并不能完全代表原始细胞。在此，我们从人类神经鞘瘤中分离、鉴定并使原代雪旺细胞永生化。我们永生化的人类雪旺细胞呈现出SWN的典型遗传突变，并保留了原始表型特征，是进一步进行遗传、功能和生物分子研究的宝贵工具。
