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

Stem cell research - 1 Dec 2024

Guan Jingyun, Duan Chunhong, Lv Yuqiang, Zhang Haiyan, Liu Guohua, Liu Yi

Abstract excerpt

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...

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Identifiers

PMID: 39213692
DOI: 10.1016/j.scr.2024.103545

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