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

doi:10.1016/j.scr.2019.101595

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

Stem Cell Res. 2019 Dec:41:101595. doi: 10.1016/j.scr.2019.101595. Epub 2019 Oct 18.

Authors

Ana Joana Duarte¹, Diogo Ribeiro², Renato Santos³, Luciana Moreira⁴, José Bragança⁵, Olga Amaral⁶

Affiliations

¹ 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. Electronic address: ana.duarte@insa.min-saude.pt.
² 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. Electronic address: diogo.ribeiro@insa.min-saude.pt.
³ 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. Electronic address: renato.santos@insa.min-saude.pt.
⁴ 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. Electronic address: luciana.moreira@insa.min-saude.pt.
⁵ Universidade do Algarve, Campus Gambelas, Faro, Portugal. Electronic address: jebraganca@ualg.pt.
⁶ 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. Electronic address: olga.amaral@insa.min-saude.pt.

PMID: 31678773
DOI: 10.1016/j.scr.2019.101595

Abstract

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: Cell models; Disease modelling; Feeder-free culture; Gaucher type 3; Induced pluripotent stem cells (iPSCs); Lysosomal glucocerebrosidase; Non-integrative vector; Sendai virus.

Publication types

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

MeSH terms

Adult
Cell Differentiation*
Cells, Cultured
Fibroblasts / metabolism
Fibroblasts / pathology*
Gaucher Disease / genetics*
Gaucher Disease / pathology*
Glucosylceramidase / genetics*
Heterozygote
Humans
Induced Pluripotent Stem Cells / metabolism
Induced Pluripotent Stem Cells / pathology*
Male
Mutation*

Substances

GBA protein, human
Glucosylceramidase