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Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease.

Stem cell research - 1 Dec 2023

Kangboonruang Kitsada, Pornsukjantra Tanapat, Tong-Ngam Pirut, Chokpanuwat Tanida, Tim-Aroon Thipwimol, Wattanasirichaigoon Duangrurdee, Anurathapan Usanarat, Hongeng Suradej, Asavapanumas Nithi, Bhukhai Kanit, Tubsuwan Alisa

Abstract excerpt

Gaucher disease (GD) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (GBA1) gene. This genetic disorder manifests with symptoms affecting multiple organs, yet the underlying mechanisms leading to pathology remain elusive. In this study, we successfully generated the MUi030-A human induced pluripotent stem cell (hiPSC) line using a non-integration method from a male type-3...

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PMID: 37890332
DOI: 10.1016/j.scr.2023.103229

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Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease.PMID 37890332Read ↗

A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene.Semantic proximity Read ↗

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

Generation of human induced pluripotent stem cell line MHHi029-A from a male Fabry disease patient carrying c.959A > T mutation.Semantic proximity Read ↗

Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB.Semantic proximity Read ↗

Human induced pluripotent stem cells line (PNUSCRi002-A) from a patient with Parkinson's disease carrying a R159W mutation in the GBA gene.Semantic proximity Read ↗

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