Induced pluripotent stem cell line BIOi003-A from a patient with ABCA4-associated retinal dystrophy carrying compound heterozygous c.(1222C>T;2919-884G>T) variants in ABCA4


ABCA4-associated retinal dystrophy is the most frequent inherited retinal dystrophy caused by biallelic variants in ABCA4 gene. We induced a new pluripotent stem cell line (BIOi003-A) from peripheral blood mononuclear cells (PBMCs) of a 14-year-old patient who carried the compound heterozygous variants c.(1222C>T;2919-884G>T) p.[Arg408Ter;Phe973LeufsTer3,=] in ABCA4. This line helps model the disease pathophysiology in vitro and construct 3D models for drug discovery. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Tian L, Zhang XH, Xu K, Li Y
Journal Stem cell research
Publication Date 2022 Oct;64:102894
PubMed 35973334
DOI 10.1016/j.scr.2022.102894

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