诱导多能干细胞系（SDQLCHi041-A），来源于一位患有 IIIB 型黏多糖贮积症的男性患者。
Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB.
机构信息
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Neuroendocrinology Department, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, China.
出版信息
Stem Cell Res. 2021 Apr;52:102212. doi: 10.1016/j.scr.2021.102212. Epub 2021 Jan 29.
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.
黏多糖贮积症 IIIB 型（MPS IIIB）是一种由 NAGLU 基因突变引起的常染色体隐性代谢疾病，其特征是进行性认知能力下降、行为困难和运动功能障碍。我们从一名患有 MPS IIIB 的 4 岁 9 个月大的患者外周血单核细胞中诱导产生了一个人诱导多能干细胞系，即 SDQLCHi041-A，该患者的 NAGLU 基因存在复合杂合突变 c.1336G>A 和 c.608G>A。SDQLCHi041-A 为研究 MPS IIIB 的致病机制提供了一个有用的细胞模型。
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