Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene

Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that...

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Detalles Bibliográficos
Autores principales: Baskfield, Amanda, Li, Rong, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6643268/
https://www.ncbi.nlm.nih.gov/pubmed/31009819
http://dx.doi.org/10.1016/j.scr.2019.101436

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6643268/
https://www.ncbi.nlm.nih.gov/pubmed/31009819
http://dx.doi.org/10.1016/j.scr.2019.101436

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