Establishment and Molecular Characterization of a Human Stem Cell Line from a Primary Cell Culture Obtained from an Ectopic Calcified Lesion of a Tumoral Calcinosis Patient Carrying a Novel GALNT3 Mutation
The establishment of this in vitro cell model system could advance the understanding of mechanisms underlying TC pathogenesis, thereby paving the way for the discovery of new diagnostic and novel gene-targeted therapeutic approaches for TC.
Authors
- Cinzia Aurilia (ORCID: https://orcid.org/0000-0002-2658-2243)
- Teresa Iantomasi (ORCID: https://orcid.org/0000-0001-7461-330X)
- Alessandro Franchi (ORCID: https://orcid.org/0000-0002-1332-5838)
- Simone Donati (ORCID: https://orcid.org/0000-0003-2973-6030)
- Giovanni Beltrami (ORCID: https://orcid.org/0000-0003-1882-2419)
- Gianna Galli
- Gaia Palmini (ORCID: https://orcid.org/0000-0002-8376-7404)
- Irene Falsetti
- Maria Luisa Brandi (ORCID: https://orcid.org/0000-0002-8741-0592)
- Roberto Zonefrati
- Andrea Moro
- Francesca Marini (ORCID: https://orcid.org/0000-0002-3678-4922)
- Laura Masi (ORCID: https://orcid.org/0000-0002-6467-4165)
- Lorenzo Margheriti
Institutions
- University of Pisa (IT)
- Azienda Ospedaliero-Universitaria Careggi (IT)
- University of Florence (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-02-24
- DOI
- https://doi.org/10.3390/genes16030263
- Primary Topic
- Heterotopic Ossification and Related Conditions
- Type
- article
- Field-Weighted Citation Impact
- 0.00