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.
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来自 IIIB 型粘多糖贮积症男性患者的诱导多能干细胞系 (SDQLCHi041-A)。
DOI：
10.1016/j.scr.2021.102212
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发表时间：
2021
影响因子：
1.2
通讯作者：
Liu,Yi
中科院分区：
文献类型：
--
作者：
Guan,Jingyun;Tian,Guangyan;Dong,Rui;Zhang,Haiyan;Yang,Xiaomeng;Li,Yue;Gai,Zhongtao;Liu,Yi
IIIB型粘多糖贮积症（MPS IIIB）是一种由NAGLU基因突变引起的常染色体隐性代谢性疾病，其特征是进行性认知能力下降、行为困难和运动功能迟缓。人诱导多能干细胞系 SDQLCHi041-A 是从 4 岁零 9 个月的 MPS IIIB 患者的外周血单核细胞中产生的，该患者携带 NAGLU 基因中 c.1336G > A 和 c.608G > A 的复合杂合突变。 SDQLCHi041-A 提供了一个有用的细胞模型来研究 MPS IIIB 的致病机制。
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.