2024-03-29T04:40:55Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/1805582019-04-26T00:56:28Zcom_10261_134com_10261_1col_10261_387
2019-04-25T11:20:31Z
urn:hdl:10261/180558
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
Calado, Sofia M.
García-Delgado, Ana B.
Cerda, Berta de la
Ponte-Zuñiga, Beatriz
Bhattacharya, Shom Shanker
Díaz-Corrales, Francisco J.
Fundació Privada Cellex
Fundación Progreso y Salud
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.
2019-04-25T11:20:31Z
2019-04-25T11:20:31Z
2018-12
artículo
Stem Cell Research 33: 251-254 (2018)
1873-5061
http://hdl.handle.net/10261/180558
10.1016/j.scr.2018.11.002
1876-7753
eng
Publisher's version
https://doi.org/10.1016/j.scr.2018.11.002
Sí
https://creativecommons.org/licenses/by/4.0/
openAccess
Elsevier