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

Rong Li; Amanda Baskfield; Jeanette Beers; Jizhong Zou; Chengyu Liu; Carlos J. Alméciga-Díaz; Wei Zheng

doi:10.1016/j.scr.2019.101408

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

Rong Li, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Carlos J. Alméciga-Díaz, Wei Zheng

Instituto de Errores Innatos del Metabolismo

Producción: Contribución a una revista › Artículo › revisión exhaustiva

5 Citas (Scopus)

Resumen

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.

Idioma original	Inglés
Número de artículo	101408
Publicación	Stem Cell Research
Volumen	36
DOI	https://doi.org/10.1016/j.scr.2019.101408
Estado	Publicada - abr. 2019

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Li, R., Baskfield, A., Beers, J., Zou, J., Liu, C., Alméciga-Díaz, C. J., & Zheng, W. (2019). 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. Stem Cell Research, 36, Artículo 101408. https://doi.org/10.1016/j.scr.2019.101408

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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",

abstract = "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.",

author = "Rong Li and Amanda Baskfield and Jeanette Beers and Jizhong Zou and Chengyu Liu and Alm{\'e}ciga-D{\'i}az, \{Carlos J.\} and Wei Zheng",

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year = "2019",

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doi = "10.1016/j.scr.2019.101408",

language = "English",

volume = "36",

journal = "Stem Cell Research",

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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 et al.
En: Stem Cell Research, Vol. 36, 101408, 04.2019.

Producción: Contribución a una revista › Artículo › revisión exhaustiva

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