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

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...

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Publicado en:Stem Cell Res
Autores principales: Brooks, Brianna M., Yeh, Charles D., Beers, Jeanette, Liu, Chengyu, Cheng, Yu-Shan, Gorshkov, Kirill, Zou, Jizhong, Zheng, Wei, Chen, Catherine Z.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2021
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8314383/
https://ncbi.nlm.nih.gov/pubmed/34088014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.scr.2021.102387
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