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Publicação
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene
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Orientador(es)
Resumo(s)
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.
Descrição
The authors thank Hildeberto Correia (Department of Human Genetics in Lisbon), for the karyotype analysis; José Ferrão (Department of Human Genetics in Lisbon), for the STR analysis; the collaboration of the central core services of Department of Human Genetics in Lisbon is acknowledge as well as Meghan Quint for assistance with English language.
Palavras-chave
Gaucher Disease Induced Pluripotent cells Cell models Gaucher type 3 INSAi001-A Disease Modelling Doenças Genéticas Genética Humana
Contexto Educativo
Citação
Stem Cell Res. 2019 Dec;41:101595. doi: 10.1016/j.scr.2019.101595. Epub 2019 Oct 18
Editora
Elsevier