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◆ Stem cell research2026-09-15

Establishment of two iPSC lines from ALS patients carrying mutations in SQSTM1 and TBK1 genes.

Serena Santangelo, Veronica Casarotto, Lorenzo Campelli, Serena Leoni, Sara Cabras, Enrico Matteoni, Giovanni De Marco, Antonio Canosa, Manuela Basso, Valentina Bonetto, Francesca Trojisi, Patrizia Bossolasco, Vincenzo Silani, Adriano Chiò, Nicola Ticozzi, Andrea Calvo, Antonia Ratti

原始摘要(英文原文)· Original abstract
We describe the generation and characterization of two induced pluripotent stem cell (iPSC) lines: one derived from an ALS patient carrying the heterozygous SQSTM1 c.1175C > T (p.Pro392Leu) mutation, identified as cell line 047, and another one (cell line 053) derived from a patient carrying the heterozygous TBK1 c.1760 + 4_1760 + 7delAGTA likely pathogenic variant, predicted to result in a premature stop codon +, together with the ERBB4 c.2402A > T (p.His801Leu) variant of unknown significance (VUS).
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Establishment of two iPSC lines from ALS patients carrying mutations in SQSTM1 and TBK1 genes. — 科研速览 Science Skim