Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3

Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3

Charcot-Marie-Tooth type 4B3 (CMT4B3) is a rare subtype of hereditary neuropathy associated with variants in the MTMR5/SBF1 gene. Herein, we report the generation and characterization of a hiPSC line from a 12-year-old Italian girl with early onset severe polyneuropathy with motor and axonal involve...

Full description

Bibliographic Details
Main Authors: Elisa Maria Turco, Angela Maria Giada Giovenale, Giovannina Rotundo, Martina Mazzoni, Paola Zanfardino, Katia Frezza, Isabella Torrente, Rose Mary Carletti, Devid Damiani, Filippo M. Santorelli, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Rosati
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506122002951

Internet

http://www.sciencedirect.com/science/article/pii/S1873506122002951

Similar Items