The generation and characterization of two induced pluripotent stem cell lines are described, one derived from an ALS patient carrying the heterozygous SQSTM1 c.1175C > T (p.Pro392Leu) mutation and another derived from a patient carrying the heterozygous TBK1 c.2402A > T (p.His801Leu) variant of unknown significance.
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).
This work describes the successful reprogramming of two human induced pluripotent stem cell (iPSC) lines originating from two independent ALS patients, both of whom carry a C9orf72 HRE mutation.
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