Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene
Summary
Genetic expansions of the hexanucleotide repeats (GGGGCC) in the C9orf72 gene appear in approximately 40% of patients with familial ALS and 7% of patients with sporadic ALS in the European population, making this mutation one of the most prevalent genetic mutations in ALS. Here, we generated a human induced pluripotent stem cell (hiPSC) line from the dermal fibroblasts of a patient carrying a 56-repeat expansion in an ALS disease-causing allele of C9orf72. These iPSCs showed stable amplification in vitro with normal karyotype and high expression of pluripotent markers and differentiated spontaneously in vivo into three germ layers. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ruotolo G, D'Anzi A, Casamassa A, Mazzoni M, Ferrari D, Lombardi I, Carletti RM, D'Asdia C, Torrente I, Frezza K, Lattante S, Sabatelli M, Pennuto M, Vescovi AL, Rosati J |
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| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103412 |
| PubMed | 38613988 |
| DOI | 10.1016/j.scr.2024.103412 |