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Stem Cell Res. 2019 Aug;39:101519. doi: 10.1016/j.scr.2019.101519. Epub 2019 Aug 2.

Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations.

Author information

1
National Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, SP 05508-900, Brazil.
2
Movement Disorders Clinic Division of Neurology, Hospital das Clínicas, Faculty of Medicine, Universidade de São Paulo (HC-FMUSP), Brazil.
3
National Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, SP 05508-900, Brazil. Electronic address: lpereira@usp.br.

Abstract

We describe the generation and characterization of hiPSC lines of one type 1-Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients heterozygous for GBA mutations. Human iPSCs were derived from lymphocytes reprogrammed with Sendai virus carrying the reprogramming factors OCT3/4, SOX2, KLF4 and MYC. The hiPSC lines were characterized according to established criteria, and retained the original GBA mutations found in the respective patients.

PMID:
31401455
DOI:
10.1016/j.scr.2019.101519
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