Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene

by Alessia Casamassa, Alessandra Zanetti, Daniela Ferrari, Ivan Lombardi, Gaia Galluzzi, Francesca D'Avanzo, Gabriella Cipressa, Alessia Bertozzi, Isabella Torrente, Angelo Luigi Vescovi, Rosella Tomanin, Jessica Rosati
Published 2022-08-01

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, Elisa Maria Turco, Giorgia Ruotolo, Isabella Torrente, Ornella Candido, Gianluca Lopez, Daniela Ferrari, Caterina Caputi, Mario Mastrangelo, Francesco Pisani, Maurizio Gelati, Vito Guarnieri, Angelo Luigi Vescovi, Jessica Rosati
Published 2023-03-01

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

by 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
Published 2022-12-01

Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein

by Angela D'Anzi, Elisa Perciballi, Giorgia Ruotolo, Daniela Ferrari, Antonietta Notaro, Ivan Lombardi, Maurizio Gelati, Katia Frezza, Laura Bernardini, Isabella Torrente, Alessandro De Luca, Vincenzo La Bella, Angelo Luigi Vescovi, Jessica Rosati
Published 2022-08-01

ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression

by Anna Guarini, Marilisa Marinelli, Simona Tavolaro, Emanuele Bellacchio, Monia Magliozzi, Sabina Chiaretti, Maria Stefania De Propris, Nadia Peragine, Simona Santangelo, Francesca Paoloni, Mauro Nanni, Ilaria Del Giudice, Francesca Romana Mauro, Isabella Torrente, Robin Foà
Published 2012-01-01

Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > ...

by Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, Elisa Maria Turco, Isabella Torrente, Ornella Candido, Francesco Nicita, Davide Tonduti, Enrico Bertini, Massimo Marano, Daniela Ferrari, Cristina Cereda, Maria Pennuto, Angelo Luigi Vescovi, Stephana Carelli, Jessica Rosati
Published 2024-08-01

DNA Methylation in the Diagnosis of Monogenic Diseases

by Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia M Sirchia, Gabriella Maria Squeo, Silvia Tabano, Elisabetta Tabolacci, Isabella Torrente, Maurizio Genuardi, Giovanni Neri, Andrea Riccio
Published 2020-03-01