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

被引：6
|
作者：
Li, Rong [1 ]
Baskfield, Amanda [1 ]
Beers, Jeanette [2 ]
Zou, Jizhong [2 ]
Liu, Chengyu [3 ]
Almeciga-Diaz, Carlos J. [4 ]
Zheng, Wei [1 ]
机构：
[1] NIH, Natl Ctr Advancing Translat Sci, 9800 Med Ctr Dr, Bethesda, MD 20892 USA
[2] NHLBI, iPSC Core, NIH, Bldg 10, Bethesda, MD 20892 USA
[3] NHLBI, Transgen Core, NIH, Bldg 10, Bethesda, MD 20892 USA
[4] Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Cra 7 43-82 Lab,305A Edificio 54, Bogota, Colombia
来源：
STEM CELL RESEARCH | 2019年 / 36卷
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1016/j.scr.2019.101408
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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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页数：5
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