Literature DB >> 30092450

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.

Xiao Zhang1, Dan Zhang2, Shang-Chih Chen2, Tina Lamey3, Jennifer A Thompson4, Terri McLaren4, John N De Roach3, Fred K Chen5, Samuel McLenachan1.   

Abstract

The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages, as well as retinal organoids.
Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2018        PMID: 30092450     DOI: 10.1016/j.scr.2018.08.001

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


  2 in total

Review 1.  The Rise of Retinal Organoids for Vision Research.

Authors:  Kritika Sharma; Tim U Krohne; Volker Busskamp
Journal:  Int J Mol Sci       Date:  2020-11-11       Impact factor: 5.923

2.  Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants.

Authors:  Xiao Zhang; Jennifer A Thompson; Dan Zhang; Jason Charng; Sukanya Arunachalam; Terri L McLaren; Tina M Lamey; John N De Roach; Luke Jennings; Samuel McLenachan; Fred K Chen
Journal:  Mol Genet Genomic Med       Date:  2020-09-15       Impact factor: 2.183

  2 in total

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