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...
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-12-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122002951 |
| _version_ | 1811310891734401024 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Elisa Maria Turco |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T10:08:10Z |
| format | Article |
| id | doaj.art-0cab54b498fd4401a61f29e608acd898 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-13T10:08:10Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-0cab54b498fd4401a61f29e608acd8982022-12-22T02:51:00ZengElsevierStem Cell Research1873-50612022-12-0165102946Generation 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 CMT4B3Elisa Maria Turco0Angela Maria Giada Giovenale1Giovannina Rotundo2Martina Mazzoni3Paola Zanfardino4Katia Frezza5Isabella Torrente6Rose Mary Carletti7Devid Damiani8Filippo M. Santorelli9Angelo Luigi Vescovi10Vittoria Petruzzella11Jessica Rosati12Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo (FG), ItalyCellular 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, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo (FG), ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo (FG), ItalyDepartment of Translational Biomedicine and Neurosciences, University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124 Bari, ItalyMedical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, ItalyMedical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo (FG), ItalyIRCCS Fondazione Stella Maris, Pisa, ItalyIRCCS Fondazione Stella Maris, Pisa, ItalyCellular 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, ItalyDepartment of Translational Biomedicine and Neurosciences, University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124 Bari, Italy; Corresponding authors.Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo (FG), Italy; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506122002951 |
| spellingShingle | 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 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 Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122002951 |
| work_keys_str_mv | AT elisamariaturco generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT angelamariagiadagiovenale generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT giovanninarotundo generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT martinamazzoni generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT paolazanfardino generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT katiafrezza generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT isabellatorrente generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT rosemarycarletti generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT deviddamiani generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT filippomsantorelli generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT angeloluigivescovi generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT vittoriapetruzzella generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 AT jessicarosati generationandcharacterizationofcssi016a9938humanpluripotentstemcelllinecarryingtwobiallelicvariantsinmtmr5sbf1generesultinginacaseofseverecmt4b3 |