rs368687817, NAGLU

N. diseases: 2
Disease: Lysosomal Storage Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lysosomal Storage Diseases
CUI: C0085078
Disease: Lysosomal Storage Diseases
0.010 GeneticVariation BEFREE RESOURCE TABLE: RESOURCE UTILITY: Although the generation of iPSCs has been reported for some lysosomal storage diseases (LSD) in general, and from other mutations of the NAGLU gene in particular (Lemonnier et al., 2011), this is the first time that NAGLU Pro358Leu MPSIIIB-iPSCs lines have been generated and fully characterized demonstrating their quality as iPS cells. 30408744 2018