Derivation and characterization of the induced pluripotent stem cell line CUIMCi004-A from a patient with a novel frameshift variant in exon 18a of OCRL

OCRL encodes for an inositol polyphosphate 5-phosphatase, located in the trans-Golgi network, endosomes, endocytic clathrin-coated pits, primary cilia. Mutations in OCRL causes Lowe syndrome (LS), a rare and complex disorder characterized by congenital cataracts, renal tubular dysfunction, and menta...

Descripción completa

Detalles Bibliográficos
Autores principales: Iannello, Grazia, Patel, Achchhe, Sirabella, Dario, Corneo, Barbara, Thaker, Vidhu V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9970692/
https://www.ncbi.nlm.nih.gov/pubmed/35074682
http://dx.doi.org/10.1016/j.scr.2021.102635

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9970692/
https://www.ncbi.nlm.nih.gov/pubmed/35074682
http://dx.doi.org/10.1016/j.scr.2021.102635

Ejemplares similares