Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

Autores de CIPF

• Candela Machuca Arellano

  Autor

• Eleonora Clemente

  Autor

• Ana Artero Castro

  Autor

• 

  Carmen Espinós Armero

  Autor

• 

  Slaven Erceg Vukicevic

  Autor

Participantes ajenos a CIPF

• Vilches, A
• Pascual-Pascual, SI
• Bolinches-Amoros, A
• Rodriguez, ML
• Jendelova, P

Grupos de Investigación

• Laboratorio de Enfermedades Raras Neurodegenerativas

• Laboratorio Terapias con Células Madre en Enfermedades Neurodegenerativas

  

  Jefe/a de Grupo

  Slaven Erceg Vukicevic

Abstract

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.