| Autor: |
Philippa Harding, Dulce Lima Cunha, Cécile Méjécase, Jonathan Eintracht, Lyes Toualbi, Hajrah Sarkar, Mariya Moosajee |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 51, Iss , Pp 102184- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2021.102184 |
| Popis: |
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 the fibroblasts through Sanger sequencing. Fibroblasts derived from a skin biopsy were reprogrammed using integration free episomal reprogramming. The established iPSC line was found to express pluripotency markers, exhibit differentiation potential in vitro and display a normal karyotype. This cell line will act as a tool for disease modelling of microphthalmia and aniridia, identification of therapeutic targets and drug screening. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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