Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation.

Autor:	Guan J; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China., Duan C; Department of Pediatrics, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China., Lv Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China., Zhang H; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China., Liu G; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China; Department of Pediatrics, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China., Liu Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China. Electronic address: y_liu99@sina.com.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2024 Dec; Vol. 81, pp. 103545. Date of Electronic Publication: 2024 Aug 27.
DOI:	10.1016/j.scr.2024.103545
Abstrakt:	GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by defects in the beta-galactosidase (GLB1) gene, which results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling, cellular damage, and organ dysfunction. We generated SDQLCHi080-A cell line from a patient with GM1 gangliosidosis carrying mutations of c.523C > T and c.574T > C > T in the GLB1 gene. The cell line exhibited typical iPSC morphology, expressed high levels of stemness markers, exhibited normal karyotype, and has the capability to differentiate into three germ layers. This cell line could provide a useful GM1 gangliosidosis model in vitro for further study. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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