Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease

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

doi:10.1016/j.scr.2023.103229

Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease

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

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

3 Citations (Scopus)

Abstract

Gaucher disease (GD) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (GBA1) gene. This genetic disorder manifests with symptoms affecting multiple organs, yet the underlying mechanisms leading to pathology remain elusive. In this study, we successfully generated the MUi030-A human induced pluripotent stem cell (hiPSC) line using a non-integration method from a male type-3 GD patient with a homozygous c.1448T>C (L444P) mutation. These hiPSCs displayed a normal karyotype and pluripotency markers and the remarkable ability to differentiate into cells representing all three germ layers. This resourceful model holds significant promise for illuminating GD's underlying pathogenesis.

Original language	English
Article number	103229
Journal	Stem Cell Research
Volume	73
DOIs	https://doi.org/10.1016/j.scr.2023.103229
Publication status	Published - Dec 2023

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Kangboonruang, K., Pornsukjantra, T., Tong-Ngam, P., Chokpanuwat, T., Tim-Aroon, T., Wattanasirichaigoon, D., Anurathapan, U., Hongeng, S., Asavapanumas, N., Bhukhai, K., & Tubsuwan, A. (2023). Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease. Stem Cell Research, 73, Article 103229. https://doi.org/10.1016/j.scr.2023.103229

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title = "Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease",

abstract = "Gaucher disease (GD) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (GBA1) gene. This genetic disorder manifests with symptoms affecting multiple organs, yet the underlying mechanisms leading to pathology remain elusive. In this study, we successfully generated the MUi030-A human induced pluripotent stem cell (hiPSC) line using a non-integration method from a male type-3 GD patient with a homozygous c.1448T>C (L444P) mutation. These hiPSCs displayed a normal karyotype and pluripotency markers and the remarkable ability to differentiate into cells representing all three germ layers. This resourceful model holds significant promise for illuminating GD's underlying pathogenesis.",

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

note = "Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = dec,

doi = "10.1016/j.scr.2023.103229",

language = "English",

volume = "73",

journal = "Stem Cell Research",

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Kangboonruang, K, Pornsukjantra, T, Tong-Ngam, P, Chokpanuwat, T, Tim-Aroon, T , Wattanasirichaigoon, D , Anurathapan, U , Hongeng, S , Asavapanumas, N , Bhukhai, K & Tubsuwan, A 2023, 'Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease', Stem Cell Research, vol. 73, 103229. https://doi.org/10.1016/j.scr.2023.103229

TY - JOUR

T1 - Establishment of MUi030-A

T2 - A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease

AU - Kangboonruang, Kitsada

AU - Pornsukjantra, Tanapat

AU - Tong-Ngam, Pirut

AU - Chokpanuwat, Tanida

AU - Tim-Aroon, Thipwimol

AU - Wattanasirichaigoon, Duangrurdee

AU - Anurathapan, Usanarat

AU - Hongeng, Suradej

AU - Asavapanumas, Nithi

AU - Bhukhai, Kanit

AU - Tubsuwan, Alisa

PY - 2023/12

Y1 - 2023/12

N2 - Gaucher disease (GD) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (GBA1) gene. This genetic disorder manifests with symptoms affecting multiple organs, yet the underlying mechanisms leading to pathology remain elusive. In this study, we successfully generated the MUi030-A human induced pluripotent stem cell (hiPSC) line using a non-integration method from a male type-3 GD patient with a homozygous c.1448T>C (L444P) mutation. These hiPSCs displayed a normal karyotype and pluripotency markers and the remarkable ability to differentiate into cells representing all three germ layers. This resourceful model holds significant promise for illuminating GD's underlying pathogenesis.

AB - Gaucher disease (GD) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (GBA1) gene. This genetic disorder manifests with symptoms affecting multiple organs, yet the underlying mechanisms leading to pathology remain elusive. In this study, we successfully generated the MUi030-A human induced pluripotent stem cell (hiPSC) line using a non-integration method from a male type-3 GD patient with a homozygous c.1448T>C (L444P) mutation. These hiPSCs displayed a normal karyotype and pluripotency markers and the remarkable ability to differentiate into cells representing all three germ layers. This resourceful model holds significant promise for illuminating GD's underlying pathogenesis.

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U2 - 10.1016/j.scr.2023.103229

DO - 10.1016/j.scr.2023.103229

M3 - Article

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AN - SCOPUS:85174598367

SN - 1873-5061

VL - 73

JO - Stem Cell Research

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Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease

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