Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the “Variant” Biochemical Phenotype of Niemann-Pick Type C1 Disease

Niemann–Pick disease type C1 (NP-C1) is a rare lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 gene. Patients display a wide spectrum on the clinical as well as on the molecular level, wherein a so-called “variant” biochemical phenotype can be observed. Here, we report...

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Detalles Bibliográficos
Autores principales: Völkner, Christin, Liedtke, Maik, Untucht, Robert, Hermann, Andreas, Frech, Moritz J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624182/
https://www.ncbi.nlm.nih.gov/pubmed/34830064
http://dx.doi.org/10.3390/ijms222212184

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624182/
https://www.ncbi.nlm.nih.gov/pubmed/34830064
http://dx.doi.org/10.3390/ijms222212184

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