Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB

Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB

Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive metabolic disorder caused by mutations in NAGLU gene, and characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. A human induced pluripotent stem cell line, SDQLCHi041-A was gener...

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Main Authors: Jingyun Guan, Guangyan Tian, Rui Dong, Haiyan Zhang, Xiaomeng Yang, Yue Li, Zhongtao Gai, Yi Liu
Format: Article
Language:English
Published: Elsevier 2021-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121000581
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spelling doaj-00a02fc7d3d44d6b82eda0b66af1e6142021-03-25T04:27:32ZengElsevierStem Cell Research1873-50612021-04-0152102212Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIBJingyun Guan0Guangyan Tian1Rui Dong2Haiyan Zhang3Xiaomeng Yang4Yue Li5Zhongtao Gai6Yi Liu7Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaNeuroendocrinology Department, Qilu Children’s Hospital of Shandong University, Jinan, Shangdong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive metabolic disorder caused by mutations in NAGLU gene, and characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. A human induced pluripotent stem cell line, SDQLCHi041-A was generated from peripheral blood mononuclear cells of a 4 years and 9 months old patient with MPS IIIB, who carried compound heterozygous mutation of c.1336G > A and c.608G > A in NAGLU gene. SDQLCHi041-A offers a useful cell model to investigate pathogenic mechanisms in MPS IIIB.http://www.sciencedirect.com/science/article/pii/S1873506121000581
collection DOAJ
language English
format Article
sources DOAJ
author Jingyun Guan
Guangyan Tian
Rui Dong
Haiyan Zhang
Xiaomeng Yang
Yue Li
Zhongtao Gai
Yi Liu
spellingShingle Jingyun Guan
Guangyan Tian
Rui Dong
Haiyan Zhang
Xiaomeng Yang
Yue Li
Zhongtao Gai
Yi Liu
Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB
Stem Cell Research
author_facet Jingyun Guan
Guangyan Tian
Rui Dong
Haiyan Zhang
Xiaomeng Yang
Yue Li
Zhongtao Gai
Yi Liu
author_sort Jingyun Guan
title Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB
title_short Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB
title_full Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB
title_fullStr Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB
title_full_unstemmed Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB
title_sort induced pluripotent stem cell line (sdqlchi041-a) from a male patient with mucopolysaccharidosis type iiib
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-04-01
description Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive metabolic disorder caused by mutations in NAGLU gene, and characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. A human induced pluripotent stem cell line, SDQLCHi041-A was generated from peripheral blood mononuclear cells of a 4 years and 9 months old patient with MPS IIIB, who carried compound heterozygous mutation of c.1336G > A and c.608G > A in NAGLU gene. SDQLCHi041-A offers a useful cell model to investigate pathogenic mechanisms in MPS IIIB.
url http://www.sciencedirect.com/science/article/pii/S1873506121000581
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