Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants

Hajrah Sarkar; Cécile Méjécase; Philippa Harding; Jonathan Eintracht; Lyes Toualbi; Dulce Lima Cunha; Mariya Moosajee

doi:10.1016/j.scr.2021.102449

Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants

Stem Cell Res. 2021 Jul:54:102449. doi: 10.1016/j.scr.2021.102449. Epub 2021 Jun 28.

Authors

Hajrah Sarkar¹, Cécile Méjécase¹, Philippa Harding², Jonathan Eintracht², Lyes Toualbi¹, Dulce Lima Cunha², Mariya Moosajee³

Affiliations

¹ UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
² UCL Institute of Ophthalmology, London, UK.
³ 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.

Abstract

Induced pluripotent stem cell (iPSC) lines were generated from two patients with RDH12 variants. UCLi014-A is from a patient with heterozygous frameshift mutation c.759del p.(Phe254Leufs*24), associated with autosomal dominant retinitis pigmentosa. UCLi015-A is from a patient with homozygous missense mutation c.619A > G p.(Asn207Asp), associated with Leber congenital amaurosis. Fibroblasts were derived from skin biopsies and reprogrammed using integration free episomal reprogramming plasmids. The iPSC lines expressed pluripotency markers, exhibited differentiation potential in vitro and displayed normal karyotypes. These cell lines will act as a tool for disease modelling, enabling comparison of disease mechanisms, identification of therapeutic targets and drug screening.

MeSH terms

Alcohol Oxidoreductases / genetics
Cell Line
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Leber Congenital Amaurosis* / genetics
Mutation
Retinitis Pigmentosa* / genetics

Substances

Alcohol Oxidoreductases
RDH12 protein, human

Abstract

MeSH terms

Substances

Grants and funding