1. 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.
- Author
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Kangboonruang K, Pornsukjantra T, Tong-Ngam P, Chokpanuwat T, Tim-Aroon T, Wattanasirichaigoon D, Anurathapan U, Hongeng S, Asavapanumas N, Bhukhai K, and Tubsuwan A
- Subjects
- Humans, Male, Glucosylceramidase genetics, Glucosylceramidase metabolism, Mutation genetics, Cells, Cultured, Gaucher Disease metabolism, Induced Pluripotent Stem Cells metabolism
- Abstract
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 GD patient with a homozygous c.1448T>C (L444P) mutation. These hiPSCs displayed a normal karyotype and pluripotency markers and the remarkable ability to differentiate into cells representing all three germ layers. This resourceful model holds significant promise for illuminating GD's underlying pathogenesis., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2023
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