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

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 imp...

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Main Authors: Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas
Other Authors: Ramathibodi Hospital
Format: Article
Published: 2022
Subjects:
Biochemistry, Genetics and Molecular Biology
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/73380
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spelling th-mahidol.733802022-08-04T10:42:24Z 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 Ramathibodi Hospital Faculty of Medicine Ramathibodi Hospital, Mahidol University Mahidol University Institute of Molecular Biosciences, Mahidol University Biochemistry, Genetics and Molecular Biology 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. 2022-08-04T03:42:24Z 2022-08-04T03:42:24Z 2022-04-01 Article Stem Cell Research. Vol.60, (2022) 10.1016/j.scr.2022.102698 18767753 18735061 2-s2.0-85124198032 https://repository.li.mahidol.ac.th/handle/123456789/73380 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85124198032&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Biochemistry, Genetics and Molecular Biology
spellingShingle Biochemistry, Genetics and Molecular Biology
Tanapat Pornsukjantra
Kitsada Kangboonruang
Pirut Tong-Ngam
Thipwimol Tim-Aroon
Duangrurdee Wattanasirichaigoon
Usanarat Anurathapan
Suradej Hongeng
Alisa Tubsuwan
Kanit Bhukhai
Nithi Asavapanumas
A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
description 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.
author2 Ramathibodi Hospital
author_facet Ramathibodi Hospital
Tanapat Pornsukjantra
Kitsada Kangboonruang
Pirut Tong-Ngam
Thipwimol Tim-Aroon
Duangrurdee Wattanasirichaigoon
Usanarat Anurathapan
Suradej Hongeng
Alisa Tubsuwan
Kanit Bhukhai
Nithi Asavapanumas
format Article
author Tanapat Pornsukjantra
Kitsada Kangboonruang
Pirut Tong-Ngam
Thipwimol Tim-Aroon
Duangrurdee Wattanasirichaigoon
Usanarat Anurathapan
Suradej Hongeng
Alisa Tubsuwan
Kanit Bhukhai
Nithi Asavapanumas
author_sort Tanapat Pornsukjantra
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
title_short A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
title_full A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
title_fullStr A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
title_full_unstemmed A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
title_sort generation of human induced pluripotent stem cell line (mui031-a) from a type-3 gaucher disease patient carrying homozygous mutation on gba1 gene
publishDate 2022
url https://repository.li.mahidol.ac.th/handle/123456789/73380
_version_ 1763490661399527424

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