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

doi:10.1016/j.scr.2022.102698

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

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

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.

Original language	English
Article number	102698
Journal	Stem Cell Research
Volume	60
DOIs	https://doi.org/10.1016/j.scr.2022.102698
Publication status	Published - Apr 2022

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Pornsukjantra, T., Kangboonruang, K., Tong-Ngam, P., Tim-Aroon, T., Wattanasirichaigoon, D., Anurathapan, U., Hongeng, S., Tubsuwan, A., Bhukhai, K., & Asavapanumas, N. (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. Stem Cell Research, 60, Article 102698. https://doi.org/10.1016/j.scr.2022.102698

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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",

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.",

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

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Pornsukjantra, T, Kangboonruang, K, Tong-Ngam, P, Tim-Aroon, T , Wattanasirichaigoon, D , Anurathapan, U , Hongeng, S , Tubsuwan, A , Bhukhai, K & Asavapanumas, N 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', Stem Cell Research, vol. 60, 102698. https://doi.org/10.1016/j.scr.2022.102698

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T1 - A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene

AU - Pornsukjantra, Tanapat

AU - Kangboonruang, Kitsada

AU - Tong-Ngam, Pirut

AU - Tim-Aroon, Thipwimol

AU - Wattanasirichaigoon, Duangrurdee

AU - Anurathapan, Usanarat

AU - Hongeng, Suradej

AU - Tubsuwan, Alisa

AU - Bhukhai, Kanit

AU - Asavapanumas, Nithi

PY - 2022/4

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AB - 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.

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

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