Title : 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.

Pub. Date : 2020 Apr

PMID : 32114296






3 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 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. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens
2 Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens
3 Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens