Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
复制标题
从因 POGLUT1 (Rumi) 错义突变而患有新型肢带型肌营养不良症 (LGMD) 的患者中产生诱导多能干细胞系 (CSCRMi001-A)。
DOI：
10.1016/j.scr.2017.08.020
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发表时间：
2017
影响因子：
1.2
通讯作者：
Darabi,Radbod
中科院分区：
文献类型：
--
作者：
Wu,Jianbo;Hunt,SamuelD;Matthias,Nadine;Servián-Morilla,Emilia;Lo,Jonathan;Jafar-Nejad,Hamed;Paradas,Carmen;Darabi,Radbod
最近，由于POGLUT 1（蛋白O-葡糖基转移酶-Rumi）的错义突变，已经鉴定出一种新型的肢带型肌营养不良症（LGMD 2 Z型），POGLUT 1是一种能够将葡萄糖添加到含有C-X-S-X-（P/A）-C共有序列的表皮生长因子样重复序列（如Notch受体）的独特丝氨酸残基上的酶。受影响的患者表现出Notch信号传导减少、肌肉干细胞池减少和α-肌营养不良蛋白聚糖的低糖基化，导致LGMD表型。在这里，我们报告了从POGLUT 1错义突变的LGMD-2 Z患者中产生的iPSC系（CSCRMi 001-A）的产生和表征，其可用于体外疾病建模。
Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation inPOGLUT1(proteinO-glucosyltransferase-Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth factor-like repeats containing a C-X-S-X-(P/A)-C consensus sequence such as Notch receptors. Affected patients demonstrate reduced Notch signaling, decreased muscle stem cell pool and hypoglycosylation of α-dystroglycan, leading to LGMD phenotype. Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation inPOGLUT1which can be used forin vitrodisease modeling.