Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant-Reference-Cited by-同舟云学术

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Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Published:2024-08 Issue: Volume:78 Page:103461
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Zhang Dan,Jennings Luke,Chen Shang-Chih,Zaw Khine,Lamey Tina M.,Thompson Jennifer A.,McLaren Terri L.,Chen Fred K.,McLenachan Samuel^ORCID

Funder

NHMRC

The McCusker Charitable Foundation

Retina Australia Queensland Inc

Channel 7 Telethon Trust

Government of Western Australia Future Health Research and Innovation Fund

Publisher

Elsevier BV

Reference10 articles.

1. Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy;Abdalla-Elsayed;Mol. Vis.,2017

2. The phenotypic spectrum associated with OTX2 mutations in humans;Gregory;Eur. J. Endocrinol.,2021

3. The Australian inherited retinal disease registry and DNA bank;John N De Roach;Tasman Med. J.,2020

4. Preconditioning the initial state of feeder-free human pluripotent stem cells promotes self-formation of three-dimensional retinal tissue;Kuwahara;Sci. Rep.,2019

5. Small-molecule-directed, efficient generation of retinal pigment epithelium from human pluripotent stem cells;Maruotti;Proc. Natl. Acad. Sci. USA,2015

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