Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

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...

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Autores principales: Li, Rong, Baskfield, Amanda, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Alméciga-Díaz, Carlos J., Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045742/
https://www.ncbi.nlm.nih.gov/pubmed/30797135
http://dx.doi.org/10.1016/j.scr.2019.101408
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author Li, Rong
Baskfield, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Alméciga-Díaz, Carlos J.
Zheng, Wei
author_facet Li, Rong
Baskfield, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Alméciga-Díaz, Carlos J.
Zheng, Wei
author_sort Li, Rong
collection PubMed
description 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.
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spelling pubmed-80457422021-04-14 Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene Li, Rong Baskfield, Amanda Beers, Jeanette Zou, Jizhong Liu, Chengyu Alméciga-Díaz, Carlos J. Zheng, Wei Stem Cell Res Article 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. 2019-02-15 2019-04 /pmc/articles/PMC8045742/ /pubmed/30797135 http://dx.doi.org/10.1016/j.scr.2019.101408 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CCBY license (http://creativecommons.org/licenses/BY/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Li, Rong
Baskfield, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Alméciga-Díaz, Carlos J.
Zheng, Wei
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_full Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_fullStr Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_short Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_sort generation of an induced pluripotent stem cell line (trndi005-a) from a mucopolysaccharidosis type iva (mps iva) patient carrying compound heterozygous p.r61w and p.wt405del mutations in the galns gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045742/
https://www.ncbi.nlm.nih.gov/pubmed/30797135
http://dx.doi.org/10.1016/j.scr.2019.101408
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