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.

Abstract

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.

• Authors: Brianna M Brooks, Charles D Yeh, Jeanette Beers, Chengyu Liu, Yu-Shan Cheng, Kirill Gorshkov, Jizhong Zou, Wei Zheng, Catherine Z Chen
• Journal: Stem cell research (Stem Cell Res) Vol. 53 Pg. 102387 (05 2021) ISSN: 1876-7753 [Electronic] England
• PMID: 34088014 (Publication Type: Journal Article, Research Support, N.I.H., Intramural)
• Copyright: Copyright © 2021. Published by Elsevier B.V.

Chemical References

• ASAH1 protein, human
• Acid Ceramidase

Topics

• Acid Ceramidase (genetics)
• Farber Lipogranulomatosis
• Homozygote
• Humans
• Induced Pluripotent Stem Cells
• Male
• Mutation (genetics)