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Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene

C. Machuca, A. Vilches, E. Clemente, SI. Pascual-Pascual, A. Bolinches-Amorós, A. Artero Castro, C. Espinos, M. Leon, P. Jendelova, S. Erceg,

. 2018 ; 33 (-) : 166-170. [pub] 20181012

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc19034927

The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of 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. This iPSC line can be used as control for Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) disease.

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$a The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. This iPSC line can be used as control for Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) disease.
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$a Vilches, Angel $u Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain.
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$a Clemente, Eleonora $u Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain.
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$a Pascual-Pascual, Samuel Ignacio $u Servicio de Neuropediatría, Hospital Universitario La Paz, Madrid, Spain.
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$a Bolinches-Amorós, Arantxa $u National Stem Cell Bank-Valencian Node, Platform for Proteomics, Genotyping and Cell Lines PRB3, Research Centre Principe Felipe, c/Eduardo Primo Yufera 3, 46012, Valencia, Spain.
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$a Artero Castro, Ana $u National Stem Cell Bank-Valencian Node, Platform for Proteomics, Genotyping and Cell Lines PRB3, Research Centre Principe Felipe, c/Eduardo Primo Yufera 3, 46012, Valencia, Spain.
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$a Espinos, Carmen $u Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders and Service of Genomics and Translational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
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$a Leon, Marian $u National Stem Cell Bank-Valencian Node, Platform for Proteomics, Genotyping and Cell Lines PRB3, Research Centre Principe Felipe, c/Eduardo Primo Yufera 3, 46012, Valencia, Spain.
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$a Jendelova, Pavla $u Institute of Experimental Medicine, Department of Tissue Cultures and Stem Cells, Academy of Science of the Czech Republic, Prague, Czech Republic.
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$a Erceg, Slaven $u Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain; National Stem Cell Bank-Valencian Node, Platform for Proteomics, Genotyping and Cell Lines PRB3, Research Centre Principe Felipe, c/Eduardo Primo Yufera 3, 46012, Valencia, Spain; Institute of Experimental Medicine, Department of Tissue Cultures and Stem Cells, Academy of Science of the Czech Republic, Prague, Czech Republic. Electronic address: serceg@cipf.es.
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