Generation of iPSC line (GLNNFi001-A) from peripheral blood mononuclear cells of a patient with macular corneal dystrophy.

Abstract

Macular corneal dystrophy (MCD) an autosomal recessive disorder leading to severe visual impairment is caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) gene. Here, we describe generation of a iPSC line from peripheral blood mononuclear cells (PBMCs) from a 38 year old MCD patient harboring a homozygous mutation, p.V172L in the CHST6 gene. The iPSC line GLNNFi001-A was generated using an integration-free Sendai virus containing (KLF4, c-MYC, OCT4 and SOX2).

• Authors: Koushik Chakrabarty, K N Prashanthi, Rohit Shetty, Shubham Argulwar, Nallathambi Jeyabalan, Arkasubhra Ghosh
• Journal: Stem cell research (Stem Cell Res) Vol. 62 Pg. 102789 (07 2022) ISSN: 1876-7753 [Electronic] England
• PMID: 35472829 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Topics

• Adult
• Corneal Dystrophies, Hereditary (genetics)
• Homozygote
• Humans
• Induced Pluripotent Stem Cells
• Leukocytes, Mononuclear
• Mutation (genetics)