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

Summary

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 producing the alpha subunit of ACDase. This Farber disease iPSC line is a useful resource to study disease pathophysiology and to develop therapeutics for treatment of patients with Farber disease. Copyright © 2021. Published by Elsevier B.V.

Authors Brooks BM, Yeh CD, Beers J, Liu C, Cheng YS, Gorshkov K, Zou J, Zheng W, Chen CZ
Journal Stem cell research
Publication Date 2021 May;53:102387
PubMed 34088014
DOI 10.1016/j.scr.2021.102387

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