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

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 hexanucleo...

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Veröffentlicht in:	Stem cell research 2023-06, Vol.69, p.103076-103076, Article 103076
Hauptverfasser:	Nievas, Micaela, Romorini, Leonardo, Isaja, Luciana, Clas, Giulia S., Rodríguez-Varela, Soledad, Mucci, Sofía, Itzcovich, Tatiana, de Ambrosi, Bruno, Scassa, María E., Sevlever, Gustavo E., Surace, Ezequiel I., Marazita, Mariela C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism C9orf72 Protein - genetics Female Frontotemporal Dementia - genetics Genotype Humans Induced Pluripotent Stem Cells - metabolism Leukocytes, Mononuclear - metabolism
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Zusammenfassung:	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.
ISSN:	1873-5061 1876-7753
DOI:	10.1016/j.scr.2023.103076