Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I
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源自 I 型粘多糖贮积症患者的人类诱导多能干细胞系 BRCi001-A 的产生
DOI：
10.1016/j.scr.2019.101406
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发表时间：
2019
影响因子：
1.2
通讯作者：
Inoue Haruhisa
中科院分区：
文献类型：
--
作者：
Suga Mika;Kondo Takayuki;Imamura Keiko;Shibukawa Ran;Okanishi Yasue;Sagara Yukako;Tsukita Kayoko;Enami Takako;Furujo Mahoko;Saijo Kaoru;Nakamura Yukio;Osawa Mitsujiro;Saito Megumu K.;Yamanaka Shinya;Inoue Haruhisa
粘多糖样沉积症I型（MPS I）是一种罕见的遗传性代谢疾病，由α-L-艾杜糖醛酸酶（IDUA）缺陷引起，IDUA是由IDUA基因编码的溶酶体蛋白。MPS I是一种进行性多系统疾病，具有广泛的症状，包括骨骼异常和认知障碍，其特征在于IDUA的各种突变引起的广泛的严重程度水平。从携带IDUA基因突变（c.266G > A; p.R89Q）的减毒MPS I（Scheie综合征）患者建立人iPSC系。这种疾病特异性的iPSC细胞系将有助于MPS I的研究。
Mucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded byIDUAgene. MPS I is a progressive multisystemic disorder with a wide range of symptoms, including skeletal abnormalities and cognitive impairment, and is characterized by a wide spectrum of severity levels caused by varied mutations in IDUA. A human iPSC line was established from an attenuated MPS I (Scheie syndrome) patient carrying anIDUAgene mutation (c.266G > A; p.R89Q). This disease-specific iPSC line will be useful for the research of MPS I.