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

Publication date: Available online 18 October 2019Source: Stem Cell ResearchAuthor(s): Ana Joana Duarte, Diogo Ribeiroa, Renato Santos, Luciana Moreira, José Bragança, Olga AmaralAbstractGaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases. Mutations in 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 iPSCs from fibroblasts from a GD type 3 patient. Differentiation of induced Pluripotent Stem Cells (iPSCs) can be employed to generate a variety of complex cell types with a high degree of genetic complexity that would otherwise be unattainable.
Source: Stem Cell Research - Category: Stem Cells Source Type: research