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; 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

doi:10.1016/j.scr.2022.102946

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

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

Affiliations

¹ Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo (FG), Italy.
² Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo (FG), Italy; Department of Biotechnology and Biosciences, University of Milano-Bicocca, P.zza della Scienza,2, 20126 Milan, Italy.
³ Department of Translational Biomedicine and Neurosciences, University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124 Bari, Italy.
⁴ Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Italy.
⁵ IRCCS Fondazione Stella Maris, Pisa, Italy.
⁶ Department of Translational Biomedicine and Neurosciences, University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124 Bari, Italy. Electronic address: [email protected].
⁷ Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo (FG), Italy. Electronic address: [email protected].

PMID: 36272304
DOI: 10.1016/j.scr.2022.102946

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Charcot-Marie-Tooth Disease* / genetics
Child
Female
Humans
Intracellular Signaling Peptides and Proteins* / genetics
Pluripotent Stem Cells*

Substances

Intracellular Signaling Peptides and Proteins
SBF1 protein, human