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

Xiao-Hui Zhang; Yue Xie; Ke Xu; Yang Li

doi:10.1016/j.scr.2021.102278

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

Stem Cell Res. 2021 May:53:102278. doi: 10.1016/j.scr.2021.102278. Epub 2021 Mar 13.

Authors

Xiao-Hui Zhang¹, Yue Xie¹, Ke Xu¹, Yang Li²

Affiliations

¹ Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, China.
² Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, China. Electronic address: yilbio@163.com.

PMID: 33752025
DOI: 10.1016/j.scr.2021.102278

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cell Differentiation
Cell Line
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Mutation
Optic Atrophy, Autosomal Dominant*