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

doi:10.1016/j.scr.2023.103076

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

Stem Cell Res. 2023 Jun:69:103076. doi: 10.1016/j.scr.2023.103076. Epub 2023 Mar 21.

Affiliations

¹ Laboratorio de Investigación Aplicada a Neurociencias, Instituto de Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (LIAN-INEU-Fleni-CONICET), Escobar, Provincia de Buenos Aires, Argentina.
² Laboratory of Neurodegenerative Diseases - Institute of Neurosciences (INEU-Fleni- CONICET), Buenos Aires, Argentina.
³ ALS Clinic. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (Fleni), Buenos Aires, Argentina.
⁴ Laboratorio de Investigación Aplicada a Neurociencias, Instituto de Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (LIAN-INEU-Fleni-CONICET), Escobar, Provincia de Buenos Aires, Argentina; Laboratory of Neurodegenerative Diseases - Institute of Neurosciences (INEU-Fleni- CONICET), Buenos Aires, Argentina.
⁵ Laboratorio de Investigación Aplicada a Neurociencias, Instituto de Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (LIAN-INEU-Fleni-CONICET), Escobar, Provincia de Buenos Aires, Argentina. Electronic address: mmarazita@fleni.org.ar.

PMID: 36963214
DOI: 10.1016/j.scr.2023.103076

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

C9orf72 Protein
C9orf72 protein, human