Literature DB >> 30468996

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2.

Carla Sanjurjo-Soriano1, Nejla Erkilic1, Gaël Manes1, Gregor Dubois1, Christian P Hamel2, Isabelle Meunier2, Vasiliki Kalatzis3.   

Abstract

We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a patient with Usher syndrome type 2 (USH2). This individual was homozygous for the most prevalent variant reported in the USH2A gene, c.2299delG localized in exon 13. Reprogramming was performed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail under feeder-free culture conditions. This iPSC line will be an invaluable tool for studying the pathophysiology of USH2 and for testing the efficacy of novel treatments.
Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2018        PMID: 30468996     DOI: 10.1016/j.scr.2018.11.007

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  3 in total

1.  A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia.

Authors:  Nejla Erkilic; Vincent Gatinois; Simona Torriano; Pauline Bouret; Carla Sanjurjo-Soriano; Valerie De Luca; Krishna Damodar; Nicolas Cereso; Jacques Puechberty; Rocio Sanchez-Alcudia; Christian P Hamel; Carmen Ayuso; Isabelle Meunier; Franck Pellestor; Vasiliki Kalatzis
Journal:  Cells       Date:  2019-09-11       Impact factor: 6.600

2.  Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells.

Authors:  Xuezhong Liu; Justin Lillywhite; Wenliang Zhu; Zaohua Huang; Anna M Clark; Nicholas Gosstola; Colin T Maguire; Derek Dykxhoorn; Zheng-Yi Chen; Jun Yang
Journal:  Genes (Basel)       Date:  2021-05-25       Impact factor: 4.096

3.  Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.

Authors:  Carla Sanjurjo-Soriano; Nejla Erkilic; David Baux; Daria Mamaeva; Christian P Hamel; Isabelle Meunier; Anne-Françoise Roux; Vasiliki Kalatzis
Journal:  Mol Ther Methods Clin Dev       Date:  2019-11-27       Impact factor: 6.698

  3 in total

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