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

Two iPSC lines from ALS patients with mutations in SQSTM1 and TBK1 genes were successfully established and characterized.

• Why it matters: Understanding cellular models with specific genetic mutations in ALS is crucial for studying disease mechanisms and developing targeted therapies.
• What they did: Researchers generated two iPSC lines: one from an ALS patient with heterozygous SQSTM1 c.1175C > T mutation (cell line 047), and another from a patient with heterozygous TBK1 c.1760 + 4_1760 + 7delAGTA mutation, predicted to cause a premature stop codon, along with an ERBB4 c.2402A > T variant of unknown significance (cell line 053).
• The result: These iPSC lines provide valuable models for investigating the roles of SQSTM1 and TBK1 mutations in ALS pathogenesis and may facilitate future research into targeted treatments.