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: | 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 |
Similar Items
-
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
by: Bolino, A, et al.
Published: (2002) -
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene
by: Giovannina Rotundo, et al.
Published: (2023-03-01) -
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene
by: G. Ruotolo, et al.
Published: (2024-06-01) -
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)
by: Eris Bidollari, et al.
Published: (2019-10-01) -
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B.
by: Bolino, A, et al.
Published: (2000)