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Autor:
Zheng Jiang, Xiao-Jing Gu, Wei-Ming Su, Qing-Qing Duan, Jun-Yu Lin, Bei Cao, Hui-Fang Shang, Yong-Ping Chen
Publikováno v:
Stem cell research. 64
CHCHD2 mutations have been reported to cause Parkinson's disease (PD) by a loss of function in mitochondria. Most reported mutations, however, were missense, which was not the perfect model for a study of haploinsufficiency. Here, a truncated mutatio
Autor:
Pauline Mencke, Ibrahim Boussaad, Gizem Önal, Anneke J.A. Kievit, Agnita J.W. Boon, Wim Mandemakers, Vincenzo Bonifati, Rejko Krüger
Publikováno v:
Stem Cell Research, 62:102792. Elsevier Inc.
Here, we describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a monogenic Parkinson's disease (PD) patient. The disease was caused by a c.634-636delGCC mutation in the PARK7 gene leading to p.158P dele
Autor:
Irina Panchuk, Ekaterina Kondrateva, Anna Demchenko, Olga Grigorieva, Anastasija Erofeeva, Elena Amelina, Vyacheslav Tabakov, Maria Orlova, Ekaterina Voronina, Victoria Pozhitnova, Alexander Lavrov, Svetlana Smirnikhina, Sergey Kutsev
Publikováno v:
Stem cell research. 64
Induced pluripotent stem cells (iPSCs) was successfully generated from skin fibroblast obtained from patient with cystic fibrosis by using non-integrating, viral CytoTune™-iPS 2.0 Sendai Reprogramming Kit, which contain three vectors preparation: p
Autor:
Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Sabal Al Hadidi, Mohammad A. Ismail, Ahmed S.H. Muamar, Ahmed A. Abdulelah, Adan Madadha, Malik Sallam, Yazan Hassona, Amira Masri, Abdalla Awidi
Publikováno v:
Stem cell research. 62
Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from
Autor:
Xianjie Lu, Wei Wang, Yanming Liu, Na Song, Mengpeng Li, Xin Mu, Nan Zhang, Qingfa Chen, Licheng Jiang, Xianglin Kong, Peng Sun, Jiabei Tong, Yunping Zhang, Jingtao Li, Shengjun Ma, Fabin Han
Publikováno v:
Stem Cell Research, Vol 60, Iss, Pp 102685-(2022)
Mutations in VPS13 gene have been recently reported as a genetic cause of Parkinson's disease (PD). In this study, we isolated the skin fibroblasts from a PD patient harboring VPS13A gene mutation (c. 4282_4289delinsA) and reprogrammed the fibroblast
Autor:
Wenwen, Sun, Xuchen, Hu, Lingyu, Wang, Yanchun, Ma, Xialin, Zhang, Ruijuan, Zhang, Lidong, Zhao, Juan, Ren, Linhua, Yang, Gang, Wang
Publikováno v:
Stem Cell Research, Vol 60, Iss, Pp 102682-(2022)
The lack of coagulation factor VIII in patient with nonsense mutation hemophilia A leads to varying degrees of bleeding symptoms, and long-term use of alternative therapies can produce inhibitors that affect the efficacy. In this study, human induced
Autor:
Xiaona Luo, Yilin Wang, Fang Yuan, Longlong Lin, Anqi Wang, Chao Wang, Miao Guo, Simei Wang, Chunmei Wang, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Zhiping Liu, Wuhen Xu, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Stem cell research. 62
Epilepsy of infancy with migrating focal seizures (EIMFS) is a kind of epileptic encephalopathy with high genetic heterogeneity. The most common pathogenic gene for EIMFS is potassium sodium-activated channel subfamily T member 1 (KCNT1). Using Senda
Autor:
Yiming Dong, Xiaowei Li, Wanrong Fu, Xiaoxu Tian, Guangli Guo, Ying Peng, Yafei Zhai, Jiangtao Zhao, Zhongren Ding, Xiaoyan Zhao, Jianzeng Dong
Publikováno v:
Stem Cell Research, Vol 58, Iss, Pp 102622-(2022)
A 25-years-old hypertrophic cardiomyopathy male patient donated his peripheral blood mononuclear cells (PBMCs) with heterozygote mutation in theTNNT2 gene. We generated induced pluripotent stem cell (iPSC) with normal karyotypic and expressing NANOG,
Publikováno v:
Stem Cell Research, Vol 58, Iss, Pp 102626-(2022)
Hypertrophic cardiomyopathy (HCM) is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. Here, we reprogrammed peripheral blood mononuclear cells (PBMCs) isolated from peripheral blood of a patient who suffered from
Publikováno v:
Stem Cell Research, Vol 60, Iss, Pp 102667-(2022)
Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy, which may arise from genetic etiologies. TANC2 mutation may cause the neurodevelopmental disorders and epilepsy such as LGS. By reprogramming with SOX2, KLF4, c-MYC and OCT3/4, we ge