2026-04-17T13:16:24Zhttps://recercat.cat/oai/request
oai:recercat.cat:2445/1715272026-03-07T19:11:30Zcom_2072_1057col_2072_478916col_2072_478908col_2072_478917
RECERCAT author Carrió, Meritxell author Mazuelas, Helena author Richaud-Patin, Yvonne author Gel Moreno, Bernat author Terribas, Ernest author Rosas, Imma author Jimenez Delgado, Senda author Biayna, Josep author Vendredy, Leen author Blanco Guillermo, Ignacio author Castellanos, Elisabeth author Lázaro García, Conxi author Raya Chamorro, Ángel author Serra Arenas, Eduard 2020-10-29T13:47:27Z2020-10-29T13:47:27Z2019-02-122020-10-26T09:26:20Z Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop through NF1 inactivation and can progress toward a malignant soft tissue sarcoma. There is a lack of non-perishable model systems to investigate PNF development. We reprogrammed PNF-derived NF1(-/-) cells, descendants from the tumor originating cell. These NF1(-/-)-induced pluripotent stem cells (iPSCs) captured the genomic status of PNFs and were able to differentiate toward neural crest stem cells and further to SCs. iPSC-derived NF1(-/-) SCs exhibited a continuous high proliferation rate, poor myelination ability, and a tendency to form 3D spheres that expressed the same markers as their PNF-derived primary SC counterparts. They represent a valuable model to study and treat PNFs. PNF-derived iPSC lines were banked for making them available. cc by-nc-nd (c) Carrió et al., 2019 http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/openAccess Neurofibromatosi Antioncogens Neurofibromatosis Antioncogenes Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion