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 Res
; 53: 102387, 2021 05.
Article
em En
| MEDLINE
| ID: mdl-34088014
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Lipogranulomatose de Farber
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Células-Tronco Pluripotentes Induzidas
Limite:
Humans
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Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article