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

Tanapat Pornsukjantra; Kitsada Kangboonruang; Pirut Tong-Ngam; Thipwimol Tim-Aroon; Duangrurdee Wattanasirichaigoon; Usanarat Anurathapan; Suradej Hongeng; Alisa Tubsuwan; Kanit Bhukhai; Nithi Asavapanumas

Stem Cell Research (Apr 2022)

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

Tanapat Pornsukjantra,
Kitsada Kangboonruang,
Pirut Tong-Ngam,
Thipwimol Tim-Aroon,
Duangrurdee Wattanasirichaigoon,
Usanarat Anurathapan,
Suradej Hongeng,
Alisa Tubsuwan,
Kanit Bhukhai,
Nithi Asavapanumas

Affiliations

Tanapat Pornsukjantra: Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Kitsada Kangboonruang: Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand
Pirut Tong-Ngam: Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand
Thipwimol Tim-Aroon: Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Duangrurdee Wattanasirichaigoon: Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Usanarat Anurathapan: Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Suradej Hongeng: Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Alisa Tubsuwan: Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand
Kanit Bhukhai: Department of Physiology, Faculty of Science, Mahidol University, Bangkok, Thailand
Nithi Asavapanumas: Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Chakri Naruebodindra Medical Institute, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bang Pla, Bang Phli, Samut Prakan, Thailand; Corresponding author at: Chakri Naruebodindra Medical Institute, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bang Pla, Bang Phli, Samut Prakan, Thailand.

Journal volume & issue: Vol. 60
p. 102698

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal