CRISPR-AsCas12a Efficiently Corrects a <i>GPR143</i> Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient-Reference-Cited by-同舟云学术

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CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient

Published:2022-06-01 Issue:3 Volume:5 Page:457-471
ISSN:2573-1599
Container-title:The CRISPR Journal
language:en
Short-container-title:The CRISPR Journal

Author:

Torriano Simona¹^ORCID,Baulier Edouard¹,Garcia Diaz Alejandro²,Corneo Barbara²^ORCID,Farber Debora B.¹³⁴

Affiliation:

1. Department of Ophthalmology, UCLA School of Medicine, Jules Stein Eye Institute, Los Angeles, California, USA.

2. Stem Cell Core, Columbia Stem Cell Initiative, Columbia University Irving Medical Center, New York, New York, USA.

3. Molecular Biology Institute and UCLA, Los Angeles, California, USA.

4. Brain Research Institute, UCLA, Los Angeles, California, USA.

Publisher

Mary Ann Liebert Inc

Subject

Genetics,Biotechnology

Link

https://www.liebertpub.com/doi/pdf/10.1089/crispr.2021.0110

Reference76 articles.

1. OA1 Mutations and Deletions in X-Linked Ocular Albinism

2. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

3. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

4. Eight previously unidentified mutations found in the OA1ocular albinism gene

5. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

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1. The molecular landscape of oculocutaneous albinism in India and its therapeutic implications;European Journal of Human Genetics;2023-11-30

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