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

Female Gaucher Disease / metabolism Glucosylceramidase / genetics Homozygote Humans Induced Pluripotent Stem Cells / metabolism Mutation / genetics

Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
04 2022
Historique:
received: 18 12 2021
revised: 27 01 2022
accepted: 30 01 2022
pubmed: 13 2 2022
medline: 16 4 2022
entrez: 12 2 2022
Statut: ppublish

Résumé

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

Identifiants

DOI: 10.1016/j.scr.2022.102698 PMID: 35151019
pubmed: 35151019
pii: S1873-5061(22)00047-2
doi: 10.1016/j.scr.2022.102698
pii:
doi:

Substances chimiques

Glucosylceramidase EC 3.2.1.45

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

102698

Informations de copyright

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

Auteurs

Tanapat Pornsukjantra (T)

Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Kitsada Kangboonruang (K)

Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand.

Pirut Tong-Ngam (P)

Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand.

Thipwimol Tim-Aroon (T)

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 (D)

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 (U)

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 (S)

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 (A)

Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand.

Kanit Bhukhai (K)

Department of Physiology, Faculty of Science, Mahidol University, Bangkok, Thailand.

Nithi Asavapanumas (N)

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. Electronic address: nithi.asa@mahidol.ac.th.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladie de Gaucher › A generation of human induced pluripotent stem...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Glucosylceramidase › A generation of human induced pluripotent stem...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › A generation of human induced pluripotent stem...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A generation of human induced pluripotent stem...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › A generation of human induced pluripotent stem...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A generation of human induced pluripotent stem...