Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
| Autor: | Angel Vilches, Pavla Jendelova, Arantxa Bolinches-Amorós, Samuel I. Pascual-Pascual, Marian Leon Rodriguez, Carmen Espinós, Ana Artero Castro, Eleonora Clemente, Slaven Erceg, Candela Machuca Arellano |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male Adolescent Immunocytochemistry Induced Pluripotent Stem Cells Biology medicine.disease_cause Cell Line Dermal fibroblast 03 medical and health sciences Kruppel-Like Factor 4 SOX2 medicine Humans Spinocerebellar Ataxias Gene lcsh:QH301-705.5 Genetics Mutation Cell Biology General Medicine 030104 developmental biology lcsh:Biology (General) Cell culture KLF4 Muscle Spasticity Reprogramming Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 31, Iss, Pp 249-252 (2018) |
| ISSN: | 1876-7753 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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