Pornsukjantra T.Kangboonruang K.Tong-Ngam P.Tim-Aroon T.Wattanasirichaigoon D.Anurathapan U.Hongeng S.Tubsuwan A.Bhukhai K.Asavapanumas N.Mahidol University2023-06-222023-06-222022-04-01Stem Cell Research Vol.60 (2022)18735061https://repository.li.mahidol.ac.th/handle/20.500.14594/87495Gaucher 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.Biochemistry, Genetics and Molecular BiologyA generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 geneArticleSCOPUS10.1016/j.scr.2022.1026982-s2.0-851241980321876775335151019