Abstract
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.
Highlights
A human induced pluripotent stem cell line (UCLi013-A) was generated from fibroblast cells of a 34-year-old donor with multiple ocular conditions including severe microphthalmia and aniridia
Resource utility The iPSC line UCLi013-A was established after reprogramming of fibroblasts isolated from a female individual with severe micro phthalmia, aniridia and other ocular disorders caused by a heterozygous missense mutation in PAX6, c.373C>A p.(Asn124Lys)
Pathogenic heterozygous variants in PAX6 cause a variety of ocular disorders including microphthalmia, aniridia, cataracts, nystagmus and coloboma
Summary
Unique stem cell line identifier Alternative name(s) of stem cell line Institution Contact information of distributor Type of cell line Origin Additional origin info. Method of modification Name of transgene or resistance Inducible/constitutive system Date archived/stock date Cell line repository/bank Ethical approval
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