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Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line.
Stem Cell Research ( IF 1.2 ) Pub Date : 2020-06-01 , DOI: 10.1016/j.scr.2020.101855
Insa Buers 1 , Lara Schöning 1 , Niki Tomas Loges 1 , Yvonne Nitschke 1 , Inga Marlena Höben 1 , Albrecht Röpke 2 , Laura Crisponi 3 , Heymut Omran 1 , Frank Rutsch 1
Affiliation  

Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2 individuals suffer from recurrent episodes of hyperthermia in the neonatal period and paradoxical sweating at cold ambient temperatures in adolescence. Variants in CLCF1 (cardiotrophin-like-cytokine 1) cause CS/CISS2. Here, we summarize the generation of three clones of one stem cell line (iPSC) of a CS/CISS2 individual carrying the CLCF1 variant c.321C>G on both alleles. These patient derived iPSC clones show a normal karyotype, several pluripotency markers, and the ability to differentiate into the three germ layers.



中文翻译:

Crisponi综合征/冷诱导出汗综合征类型2:将CS / CISS2个体来源的成纤维细胞重编程为一个iPSC系的三个克隆。

Crisponi综合征/ 2型冷汗综合征(CS / CISS2)是一种罕见的疾病,具有严重的体温调节功能障碍。CS / CISS2个体在新生儿时期反复发作高热,并在青春期寒冷的环境温度下出现反常的出汗。变体在CLCF1(心肌营养素样细胞因子1)引起CS / CISS2。在这里,我们总结了在两个等位基因上均携带CLCF1变体c.321C> G的CS / CISS2个体的一个干细胞系(iPSC)的三个克隆的生成。这些患者来源的iPSC克隆显示出正常的核型,几种多能性标记以及分化为三个胚层的能力。

更新日期:2020-06-01
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