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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.
Harding, Philippa; Lima Cunha, Dulce; Méjécase, Cécile; Eintracht, Jonathan; Toualbi, Lyes; Sarkar, Hajrah; Moosajee, Mariya.
Afiliação
  • Harding P; UCL Institute of Ophthalmology, London, UK.
  • Lima Cunha D; UCL Institute of Ophthalmology, London, UK.
  • Méjécase C; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
  • Eintracht J; UCL Institute of Ophthalmology, London, UK.
  • Toualbi L; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
  • Sarkar H; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
  • Moosajee M; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address: m.moosajee@ucl.ac.uk.
Stem Cell Res ; 51: 102184, 2021 03.
Article em En | MEDLINE | ID: mdl-33524672
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aniridia / Microftalmia / Células-Tronco Pluripotentes Induzidas Tipo de estudo: Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aniridia / Microftalmia / Células-Tronco Pluripotentes Induzidas Tipo de estudo: Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article