Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants

Induced pluripotent stem cell (iPSC) lines were generated from two patients with RDH12 variants. UCLi014-A is from a patient with heterozygous frameshift mutation c.759del p.(Phe254Leufs*24), associated with autosomal dominant retinitis pigmentosa. UCLi015-A is from a patient with homozygous missens...

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Detalles Bibliográficos
Autores principales: Sarkar, Hajrah, Méjécase, Cécile, Harding, Philippa, Eintracht, Jonathan, Toualbi, Lyes, Cunha, Dulce Lima, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363920/
https://www.ncbi.nlm.nih.gov/pubmed/34216980
http://dx.doi.org/10.1016/j.scr.2021.102449

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363920/
https://www.ncbi.nlm.nih.gov/pubmed/34216980
http://dx.doi.org/10.1016/j.scr.2021.102449

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