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Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.

Stem cell research - 1 Aug 2022

D'Anzi Angela, Perciballi Elisa, Ruotolo Giorgia, Ferrari Daniela, Notaro Antonietta, Lombardi Ivan, Gelati Maurizio, Frezza Katia, Bernardini Laura, Torrente Isabella, De Luca Alessandro, La Bella Vincenzo, Luigi Vescovi Angelo, Rosati Jessica

Abstract excerpt

Amyotrophic Lateral Sclerosis (ALS) is a fatal disease affecting both upper and lower motoneurons. The transactive response DNA binding protein (TARDBP) gene, encoding for TDP-43, is one of the most commonly mutated gene associated with familial cases of ALS (10%). We generated a human induced pluripotent stem cell (hiPSC) line from the fibroblasts of an asymptomatic subject carrying the TARDBP p.G376D mutation....

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PMID: 35714448
DOI: 10.1016/j.scr.2022.102835

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.PMID 35714448Read ↗

Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation.Semantic proximity Read ↗

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Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A).Semantic proximity Read ↗

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