从一名患有由SACSIN基因突变引起的常染色体隐性遗传性沙勒沃伊-萨格奈痉挛性共济失调（ARSACS）的患者身上生成人诱导多能干细胞系。
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.
作者信息
Arellano Candela Machuca, Vilches Angel, Clemente Eleonora, Pascual-Pascual Samuel Ignacio, Bolinches-Amorós Arantxa, Castro Ana Artero, Espinos Carmen, Rodriguez Marian Leon, Jendelova Pavla, Erceg Slaven
机构信息
Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain.
Servicio de Neuropediatría, Hospital Universitario La Paz, Madrid, Spain.
出版信息
Stem Cell Res. 2018 Aug;31:249-252. doi: 10.1016/j.scr.2018.07.012. Epub 2018 Jul 27.
The human iPSC cell line, ARS-FiPS4F1 (ESi063-A), derived from dermal fibroblast from the patient autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations on the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro. This iPSC line can be further differentiated toward affected cells to better understand molecular mechanisms of disease and pathophysiology.
人类诱导多能干细胞系ARS-FiPS4F1（ESi063-A），源自一名患有常染色体隐性遗传性夏勒沃-萨格奈痉挛性共济失调（ARSACS）患者的皮肤成纤维细胞，该疾病由SACSIN基因突变引起。该细胞系通过使用OCT3/4、SOX2、CMYC和KLF4重编程因子的非整合重编程技术产生。通过免疫细胞化学和逆转录聚合酶链反应评估其多能性。在体外验证了其分化能力。该诱导多能干细胞系可进一步分化为受影响的细胞，以更好地理解疾病的分子机制和病理生理学。
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