An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene

Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficki...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Rong, Pradhan, Manisha, Xu, Miao, Roeder, Amanda, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Porter, Forbes D., Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218921/
https://www.ncbi.nlm.nih.gov/pubmed/32114296
http://dx.doi.org/10.1016/j.scr.2020.101737

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218921/
https://www.ncbi.nlm.nih.gov/pubmed/32114296
http://dx.doi.org/10.1016/j.scr.2020.101737

Ejemplares similares