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 |
| PubMed Central | PMC8314383 |
| DOI | 10.1016/j.scr.2021.102387 |