Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A.
Stem Cell Res
; 65: 102937, 2022 12.
Article
en En
| MEDLINE
| ID: mdl-36270067
ABSTRACT
X-linked juvenile retinoschisis (XLRS), caused by the mutation of RS1 gene, is one of the most common causes of macular degeneration for male adolescents. The mutations and clinical manifestations of the disease are diverse. Neither the relationship between the genotypes and phenotypes, nor the radical treatment like gene therapy has been found by now. Retrospective studies have shown that carbonic anhydrase inhibitors can help reduce cysts. However, the specifically pharmacological mechanism remains unknown. Here, we culture induced pluripotent stem cells by drawing peripheral blood from a patient with XLRS, which are supposed to facilitate related researches.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retinosquisis
/
Células Madre Pluripotentes Inducidas
Tipo de estudio:
Observational_studies
Límite:
Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2022
Tipo del documento:
Article
País de afiliación:
China