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

Nievas, Micaela; Romorini, Leonardo; Isaja, Luciana; Clas, Giulia Solange; Rodríguez Varela, María Soledad; Mucci, Sofía; Itzcovich, Tatiana; de Ambrosi, Bruno; Scassa, María Élida; Sevlever, Gustavo Emilio; Surace, Ezequiel Ignacio; Marazita, Mariela Claudia

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

Nievas, Micaela; Romorini, Leonardo; Isaja, Luciana; Clas, Giulia Solange; Rodríguez Varela, María Soledad; Mucci, Sofía; Itzcovich, Tatiana; de Ambrosi, Bruno; Scassa, María Élida; Sevlever, Gustavo Emilio; Surace, Ezequiel Ignacio; Marazita, Mariela Claudia

URI: https://doi.org/10.1016/j.scr.2023.103076
https://repositorio.fleni.org.ar/xmlui/handle/123456789/884

Fecha: 2023-03-22

Resumen:

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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