Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations

Recessive Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene, which plays a role as a retinaldehyde flippase in the photoreceptor outer segments. In this work, two human induced pluripotent s...

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Detalles Bibliográficos
Autores principales: Riera, Marina, Patel, Achchhe, Burés-Jelstrup, Anniken, Corcostegui, Borja, Chang, Stanley, Pomares, Esther, Corneo, Barbara, Sparrow, Janet R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668028/
https://www.ncbi.nlm.nih.gov/pubmed/30798147
http://dx.doi.org/10.1016/j.scr.2019.101389

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