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
Issued Date
2023-12-01
Resource Type
ISSN
18735061
eISSN
18767753
Scopus ID
2-s2.0-85174598367
Journal Title
Stem Cell Research
Volume
73
Rights Holder(s)
SCOPUS
Bibliographic Citation
Stem Cell Research Vol.73 (2023)
Suggested Citation
Kangboonruang K., Pornsukjantra T., Tong-Ngam P., Chokpanuwat T., Tim-Aroon T., Wattanasirichaigoon D., Anurathapan U., Hongeng S., Asavapanumas N., Bhukhai K., Tubsuwan A. 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 Vol.73 (2023). doi:10.1016/j.scr.2023.103229 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/90832
Title
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
Other Contributor(s)
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.