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

National Center for Advancing Translational Sciences (NCATS)
National Institutes of Health

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

ODS de las Naciones Unidas

Este resultado contribuye a los siguientes Objetivos de Desarrollo Sostenible

ODS 3: Salud y bienestar

Acceder al documento

10.1016/j.scr.2019.101408

Otros archivos y enlaces

Enlace a la publicación en Scopus

Huella

Profundice en los temas de investigación de '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'. En conjunto forman una huella única.

Citar esto

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

@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",

issn = "1873-5061",

publisher = "Elsevier B.V.",

}

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

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 -