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Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1.

Stem cell research - 1 May 2021

Brooks Brianna M, Yeh Charles D, Beers Jeanette, Liu Chengyu, Cheng Yu-Shan, Gorshkov Kirill, Zou Jizhong, Zheng Wei, Chen Catherine Z

Abstract excerpt

Farber disease is an ultra-rare lysosomal storage disease. Mutations in the N-acylsphingosine amidohydrolase (ASAH1) gene, which encodes for the enzyme acid ceramidase (ACDase), cause ceramides to accumulate in the body. A human induced pluripotent stem cell (iPSC) line TRNDi030-A was generated from fibroblasts of a male patient with a homozygous p. Y36C (c.107 A>G) variant in the second exon of the ASAH1...

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PMID: 34088014
DOI: 10.1016/j.scr.2021.102387
PMCID: PMC8314383

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