RT Journal Article
T1 Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation.
A1 Calado, Sofia M
A1 Garcia-Delgado, Ana B
A1 De la Cerda, Berta
A1 Ponte-Zuñiga, Beatriz
A1 Bhattacharya, Shom S
A1 Díaz-Corrales, Francisco J
AB Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a heterozygous double mutation in EYS gene was generated by non-integrative reprogramming technology, using hOCT3/4, hSOX2, hc-MYC and hKLF4 reprogramming factors. Pluripotency and differentiation capacity were assessed by immunocytochemistry and RT-PCR. This iPSC line can be further differentiated towards the affected cells to understand the pathophysiology of the disease and test new therapeutic strategies.
YR 2018
FD 2018-11-16
LK http://hdl.handle.net/10668/13226
UL http://hdl.handle.net/10668/13226
LA en
DS RISalud
RD Apr 7, 2025