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Article

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

Stem cell research - 1 Jul 2022

Chakrabarty Koushik, Prashanthi K N, Shetty Rohit, Argulwar Shubham, Jeyabalan Nallathambi, Ghosh Arkasubhra

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35472829
DOI: 10.1016/j.scr.2022.102789

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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