Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene


We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) in PAX6 gene. Non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line showed normal karyotype, expressed pluripotency markers, exhibited differentiation potential in vitro and kept PAX6 gene mutation. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhang H, Ma Y, Yu S, Yang X, Li Y, Guan J, Dong R, Gai Z, Liu Y
Journal Stem cell research
Publication Date 2019 Dec;41:101611
PubMed 31707209
DOI 10.1016/j.scr.2019.101611

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