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
Summary
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 involvement, harboring biallelic variants in the MTMR5/SBF1 gene. Fibroblasts were reprogrammed using non-integrating episomal plasmids, and iPSCs successfully passed the stemness and pluripotency tests. Patient-specific hiPSCs were produced to obtain a disease model for the study of this rare condition. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Maria Turco E, Maria Giada Giovenale A, Rotundo G, Mazzoni M, Zanfardino P, Frezza K, Torrente I, Mary Carletti R, Damiani D, Santorelli FM, Luigi Vescovi A, Petruzzella V, Rosati J |
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| Journal | Stem cell research |
| Publication Date | 2022 Dec;65:102946 |
| PubMed | 36272304 |
| DOI | 10.1016/j.scr.2022.102946 |