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Generation of patient-specific pluripotent induced stem cell line UFRJi007-A from a Brazilian familial amyotrophic lateral sclerosis patient.

Fernanda Gubert | Juliana F Vasques | Tatiane D Cozendey | Pablo Domizi | María Fernanda Toledo | Tais H Kasai-Brunswick | Camila Hochman-Mendez | Mário Campos Junior | Verônica Marques Zembrzuski | Marli P S Loureiro | José M B Lima | Claudio H Gress | Giselda M K Cabello | Pedro H Cabello | Tamara Borgonovo | Isadora M Vaz | Rosane Silva | Rosalia Mendez-Otero
Stem cell research | 2019

Induced pluripotent stem cell (iPSC) line were generated from erythroblasts of a Brazilian patient with familiar form of amyotrophic lateral sclerosis (ALS). NGS analysis demonstrated that patient carried a mutation in SOD1 gene, as well as a deletion in FUS gene. CytoTune™-iPS 2.0 Sendai Reprogramming Kit (containing the reprogramming factors OCT3/4, KLF4, SOX2 and cMYC) was used to generate the cell lines. The iPSCs express pluripotency markers, have normal karyotype and differentiated spontaneously in the three germ layers. The expression of Sendai virus was lost in all iPSC lines after 15 passages.

Pubmed ID: 31301488

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GeneMapper (tool)

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