A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
Issued Date
2022-04-01
Resource Type
ISSN
18735061
eISSN
18767753
Scopus ID
2-s2.0-85124198032
Pubmed ID
35151019
Journal Title
Stem Cell Research
Volume
60
Rights Holder(s)
SCOPUS
Bibliographic Citation
Stem Cell Research Vol.60 (2022)
Suggested Citation
Pornsukjantra T., Kangboonruang K., Tong-Ngam P., Tim-Aroon T., Wattanasirichaigoon D., Anurathapan U., Hongeng S., Tubsuwan A., Bhukhai K., Asavapanumas N. A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene. Stem Cell Research Vol.60 (2022). doi:10.1016/j.scr.2022.102698 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/87495
Title
A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
Other Contributor(s)
Abstract
Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases caused by mutation of glucocerebrosidase (GBA1) gene. GD patients develop symptoms in various organs of the body; however, the underlying mechanisms causing pathology are still elusive. Thus, a suitable disease model is important in order to facilitate subsequent investigations. Here, we established MUi031-A human induced pluripotent stem cell (hiPSC) line from CD34+ hematopoietic stem cells of a female type-3 GD patient with homozygous c.1448 T > C (L444P) mutation. The cells exhibited embryonic stem cell-like characteristics and expressed pluripotency markers with capability to differentiate into three germ layers.