Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

Ana Joana Duarte; Diogo Ribeiro; Renato Santos; Luciana Moreira; José Bragança; Olga Amaral

Stem Cell Research (Dec 2019)

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

Ana Joana Duarte,
Diogo Ribeiro,
Renato Santos,
Luciana Moreira,
José Bragança,
Olga Amaral

Affiliations

Ana Joana Duarte: Departamento de Genética Humana, Unidade de Investigação e Desenvolvimento, Instituto Nacional de Saúde Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; Universidade do Algarve, Campus Gambelas, Faro, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal
Diogo Ribeiro: Departamento de Genética Humana, Unidade de Investigação e Desenvolvimento, Instituto Nacional de Saúde Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; ICBAS, University of Porto, 4099-002 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal
Renato Santos: Departamento de Genética Humana, Unidade de Investigação e Desenvolvimento, Instituto Nacional de Saúde Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal
Luciana Moreira: Departamento de Genética Humana, Unidade de Investigação e Desenvolvimento, Instituto Nacional de Saúde Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal
José Bragança: Universidade do Algarve, Campus Gambelas, Faro, Portugal
Olga Amaral: Departamento de Genética Humana, Unidade de Investigação e Desenvolvimento, Instituto Nacional de Saúde Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal; Corresponding author at: Department of Genetics, Unit of Research & Development, 4000 Porto, Portugal.

Journal volume & issue: Vol. 41

Abstract

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Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases. Causal mutations in the glucocerebrosidase 1 (GBA1) commonly lead to abnormal protein and GD, heterozygosity is a genetic risk factor for Parkinson's disease. This work describes the use of a non-integrative approach using Sendai Virus delivery to establish induced Pluripotent Stem Cells (iPSCs) from fibroblasts from a GD type 3 patient. Differentiation of iPSCs can be employed to generate a variety of complex cell types with a high degree of genetic complexity that would otherwise be unattainable. Keywords: Lysosomal glucocerebrosidase, Induced pluripotent stem cells (iPSCs), Cell models, Disease modelling, Sendai virus, Feeder-free culture, Non-integrative vector, Gaucher type 3

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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