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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...
Autores principales: | Harding, Philippa, Lima Cunha, Dulce, Méjécase, Cécile, Eintracht, Jonathan, Toualbi, Lyes, Sarkar, Hajrah, Moosajee, Mariya |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
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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