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Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6

A human induced pluripotent stem cell (hiPSC) line (UCLi013-A) was generated from fibroblast cells of a 34-year-old donor with multiple ocular conditions including severe microphthalmia and aniridia. The patient had a heterozygous missense mutation in PAX6 c.372C>A, p.(Asn124Lys), validated in th...

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Detalles Bibliográficos
Autores principales:	Harding, Philippa, Lima Cunha, Dulce, Méjécase, Cécile, Eintracht, Jonathan, Toualbi, Lyes, Sarkar, Hajrah, Moosajee, Mariya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Lab resource: Stem Cell Line
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957338/ https://www.ncbi.nlm.nih.gov/pubmed/33524672 http://dx.doi.org/10.1016/j.scr.2021.102184

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