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

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...

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Detalhes bibliográficos
Autor principal: Duarte, Ana Joana (author)
Outros Autores: Ribeiro, Diogo (author), Santos, Renato (author), Moreira, Luciana (author), Bragança, José (author), Amaral, Olga (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Lysosomal glucocerebrosidase
Induced pluripotent stem cells (iPSCs)
Cell models
Disease modelling
Sendai virus
Feeder-free culture
Non-integrative vector
Gaucher type 3
Texto completo:http://hdl.handle.net/10400.1/13513
País:Portugal
Oai:oai:sapientia.ualg.pt:10400.1/13513

Texto Completo

http://hdl.handle.net/10400.1/13513

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