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

Turco, Elisa Maria; Giovenale, Angela Maria Giada; Rotundo, Giovannina; Mazzoni, Martina; Zanfardino, Paola; Frezza, Katia; Torrente, Isabella; Carletti, Rose Mary; Damiani, Devid; Santorelli, Filippo M.; Vescovi, Angelo L.; Petruzzella, Vittoria; Rosati, Jessica

doi:10.1016/j.scr.2022.102946

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Charcot-Marie-Tooth Disease (CMT): Types 4B2, 4B3 (CMT4B3)

Amani,

Mirghaderi

2023

Genetic Syndromes

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Charcot-Marie-Tooth Disease (CMT): Types 4B2, 4B3 (CMT4B3)

Amani,

Mirghaderi

2023

Genetic Syndromes

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Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene

Baggiani,

Santorelli,

Mero

et al. 2024

Stem Cell Research

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Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders

Baggiani,

Damiani,

Privitera

et al. 2024

IJMS

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Hereditary spastic paraplegias are rare genetic disorders characterized by corticospinal tract impairment. Spastic paraplegia 83 (SPG83) is associated with biallelic mutations in the HPDL gene, leading to varied severities from neonatal to juvenile onset. The function of HPDL is unclear, though it is speculated to play a role in alternative coenzyme Q10 biosynthesis. Here, we report the generation of hiPS lines from primary skin fibroblasts derived from three SPG83 patients with different HPDL mutations, using episomal reprogramming. The patients’ clinical characteristics are carefully listed. The hiPS lines were meticulously characterized, demonstrating typical pluripotent characteristics through immunofluorescence assays for stemness markers (OCT4, TRA1-60, NANOG, and SSEA4) and RT-PCR for endogenous gene expression. Genetic integrity and identity were confirmed via Sanger sequencing and short tandem repeat analysis. These hiPS cells displayed typical pluripotent characteristics and were able to differentiate into neocortical neurons via a dual SMAD inhibition protocol. In addition, HPDL mutant neurons assessed via long-term culturing were able to achieve effective maturation, similarly to their wild-type counterparts. The HPDL hiPS lines we generated will provide a valuable model for studying SPG83, offering insights into its molecular mechanisms and potential for developing targeted therapies.

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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

Cited by 3 publications

References 4 publications

Charcot-Marie-Tooth Disease (CMT): Types 4B2, 4B3 (CMT4B3)

Charcot-Marie-Tooth Disease (CMT): Types 4B2, 4B3 (CMT4B3)

Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders

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