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

Institute of Inborn Errors of Metabolism

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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.

Original language	English
Article number	101408
Journal	Stem Cell Research
Volume	36
DOIs	https://doi.org/10.1016/j.scr.2019.101408
State	Published - Apr 2019

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SDG 3 Good Health and Well-being

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10.1016/j.scr.2019.101408

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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, Article 101408. https://doi.org/10.1016/j.scr.2019.101408

@article{ede9f431144c4112b82fd26f16062df7,

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",

note = "Publisher Copyright: {\textcopyright} 2019",

year = "2019",

month = apr,

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.
In: Stem Cell Research, Vol. 36, 101408, 04.2019.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - 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

AU - Li, Rong

AU - Baskfield, Amanda

AU - Beers, Jeanette

AU - Zou, Jizhong

AU - Liu, Chengyu

AU - Alméciga-Díaz, Carlos J.

AU - Zheng, Wei

PY - 2019/4

Y1 - 2019/4

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85061633139

U2 - 10.1016/j.scr.2019.101408

DO - 10.1016/j.scr.2019.101408

M3 - Article

C2 - 30797135

AN - SCOPUS:85061633139

SN - 1873-5061

VL - 36

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101408

ER -

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

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