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. 2022 Dec:65:102946.
doi: 10.1016/j.scr.2022.102946. Epub 2022 Oct 17.

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

Elisa Maria Turco  1 , Angela Maria Giada Giovenale  2 , Giovannina Rotundo  1 , Martina Mazzoni  1 , Paola Zanfardino  3 , Katia Frezza  4 , Isabella Torrente  4 , Rose Mary Carletti  1 , Devid Damiani  5 , Filippo M Santorelli  5 , Angelo Luigi Vescovi  2 , Vittoria Petruzzella  6 , Jessica Rosati  7
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Free article

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

Elisa Maria Turco et al. Stem Cell Res. 2022 Dec.
Free article

Abstract

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.

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Conflict of interest statement

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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