Generation of a human induced pluripotent stem cell line (INEUi001-A) from an amyotrophic lateral sclerosis/frontotemporal dementia patient with a C9ORF72 G4C2 genotype of <2 (GGGGCCG) and 10 repeats.

Micaela Nievas,Leonardo Romorini,Luciana Isaja,Giulia S Clas,Soledad Rodríguez-Varela,Sofía Mucci,Tatiana Itzcovich, Bruno de Ambrosi,María E Scassa,Gustavo E Sevlever,Ezequiel I Surace,Mariela C Marazita

Stem cell research（2023）

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摘要

Human induced pluripotent stem cell (hiPSC) line INEUi001-A was reprogrammed from peripheral blood mononuclear cells (PBMC) using the lentiviral-hSTEMCCA-loxP vector. PBMCs were obtained from a 75- year-old female ALS/FTD disease patient carrying a heterozygous deletion within the C9ORF72 hexanucleotide repeat region resulting in a GGGGCCG sequence (∼1.16 repeats). C9ORF72 genotype was maintained and stemness and pluripotency confirmed in INEUi001-A hiPSC line.

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