Generation of an induced pluripotent stem cell line BIOi002-A from a patient with autosomal dominant optic atrophy


Mutations of the OPA1 gene are responsible for over 70% of autosomal dominant optic atrophy patients. Peripheral blood mononuclear cells (PBMCs) were isolated from a 27-year-old patient with heterozygous c.2708_2711delTTAG mutation in the OPA1 gene. PBMCs were reprogrammed into induced pluripotent stem cell (iPSC) line with episomal plasmids encoding hOCT4, hSOX2, hNANOG, hLIN28, hKLF4 and hL-MYC. The established iPSC line had normal karyotype, expressed pluripotent markers, and was capable to differentiate into the three germ layers in vivo. Copyright © 2021. Published by Elsevier B.V.

Authors Zhang XH, Xie Y, Xu K, Li Y
Journal Stem cell research
Publication Date 2021 May;53:102278
PubMed 33752025
DOI 10.1016/j.scr.2021.102278

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