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


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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Pornsukjantra T, Kangboonruang K, Tong-Ngam P, Tim-Aroon T, Wattanasirichaigoon D, Anurathapan U, Hongeng S, Tubsuwan A, Bhukhai K, Asavapanumas N
Journal Stem cell research
Publication Date 2022 Apr;60:102698
PubMed 35151019
DOI 10.1016/j.scr.2022.102698

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