Searching across hundreds of databases
Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known as glycosaminoglycans (GAGs). Deficiency in this enzyme causes accumulation of GAGs in lysosomes of body tissues. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a MPS IVA patient that has compound heterozygous mutations (p.R61W and p.WT405del) in the GALNS gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development.
Pubmed ID: 30797135 RIS Download
Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.
This isotype control targets Not Applicable
View all literature mentionsThis isotype control targets Not Applicable
View all literature mentionsThis monoclonal targets SSEA4
View all literature mentionsThis unknown targets Rabbit Nanog N-terminus Milli-Mark? AlexaFluor?488
View all literature mentionsThis unknown targets Rabbit IgG (H+L)
View all literature mentionsThis monoclonal targets SSEA4
View all literature mentionsThis polyclonal secondary targets IgG (H+L)
View all literature mentionsThis monoclonal targets TRA-1-60
View all literature mentionsThis monoclonal targets Nanog
View all literature mentionsThis monoclonal targets Human SOX2
View all literature mentionsThis monoclonal targets OCT4
View all literature mentionsThis polyclonal targets Rabbit IgG Isotype Control (Alexa Fluor 488 Conjugate)
View all literature mentionsThis isotype control targets Not Applicable
View all literature mentionsThis isotype control targets Not Applicable
View all literature mentionsThis monoclonal targets SSEA4
View all literature mentionsThis unknown targets Rabbit Nanog N-terminus Milli-Mark? AlexaFluor?488
View all literature mentionsThis monoclonal targets TRA-1-60
View all literature mentionsThis unknown targets Rabbit IgG (H+L)
View all literature mentionsThis polyclonal secondary targets IgG (H+L)
View all literature mentionsThis monoclonal targets SSEA4
View all literature mentionsThis monoclonal targets OCT4
View all literature mentionsThis monoclonal targets Nanog
View all literature mentionsThis monoclonal targets Human SOX2
View all literature mentionsThe SciCrunch Infrastructure was developed as a cooperative data platform to be used by diverse communities in making data more FAIR.
scicrunch.org
