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

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 missens...

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Autores principales: Sarkar, Hajrah, Méjécase, Cécile, Harding, Philippa, Eintracht, Jonathan, Toualbi, Lyes, Cunha, Dulce Lima, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363920/
https://www.ncbi.nlm.nih.gov/pubmed/34216980
http://dx.doi.org/10.1016/j.scr.2021.102449
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author Sarkar, Hajrah
Méjécase, Cécile
Harding, Philippa
Eintracht, Jonathan
Toualbi, Lyes
Cunha, Dulce Lima
Moosajee, Mariya
author_facet Sarkar, Hajrah
Méjécase, Cécile
Harding, Philippa
Eintracht, Jonathan
Toualbi, Lyes
Cunha, Dulce Lima
Moosajee, Mariya
author_sort Sarkar, Hajrah
collection PubMed
description 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.
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spelling pubmed-83639202021-08-23 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 Sarkar, Hajrah Méjécase, Cécile Harding, Philippa Eintracht, Jonathan Toualbi, Lyes Cunha, Dulce Lima Moosajee, Mariya Stem Cell Res Article 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. Elsevier 2021-07 /pmc/articles/PMC8363920/ /pubmed/34216980 http://dx.doi.org/10.1016/j.scr.2021.102449 Text en © 2021 The Author(s) https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Sarkar, Hajrah
Méjécase, Cécile
Harding, Philippa
Eintracht, Jonathan
Toualbi, Lyes
Cunha, Dulce Lima
Moosajee, Mariya
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363920/
https://www.ncbi.nlm.nih.gov/pubmed/34216980
http://dx.doi.org/10.1016/j.scr.2021.102449
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