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

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 th...

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Autores principales: Harding, Philippa, Lima Cunha, Dulce, Méjécase, Cécile, Eintracht, Jonathan, Toualbi, Lyes, Sarkar, Hajrah, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Lab resource: Stem Cell Line
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957338/
https://www.ncbi.nlm.nih.gov/pubmed/33524672
http://dx.doi.org/10.1016/j.scr.2021.102184
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author Harding, Philippa
Lima Cunha, Dulce
Méjécase, Cécile
Eintracht, Jonathan
Toualbi, Lyes
Sarkar, Hajrah
Moosajee, Mariya
author_facet Harding, Philippa
Lima Cunha, Dulce
Méjécase, Cécile
Eintracht, Jonathan
Toualbi, Lyes
Sarkar, Hajrah
Moosajee, Mariya
author_sort Harding, Philippa
collection PubMed
description 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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spelling pubmed-79573382021-03-19 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 Stem Cell Res Lab resource: Stem Cell Line 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. Elsevier 2021-03 /pmc/articles/PMC7957338/ /pubmed/33524672 http://dx.doi.org/10.1016/j.scr.2021.102184 Text en © 2021 The Authors. Published by Elsevier B.V. http://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 Lab resource: Stem Cell Line
Harding, Philippa
Lima Cunha, Dulce
Méjécase, Cécile
Eintracht, Jonathan
Toualbi, Lyes
Sarkar, Hajrah
Moosajee, Mariya
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Lab resource: Stem Cell Line
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957338/
https://www.ncbi.nlm.nih.gov/pubmed/33524672
http://dx.doi.org/10.1016/j.scr.2021.102184
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