Generation and characterization of human induced pluripotent stem cells line JLUEYEi001-A from a 45 year old female with Stickler syndrome


Peripheral blood was extracted from a 45-year old female patient clinically diagnosed with Stickler syndrome harboring a heterozygous splicing mutation in COL2A1 (NM_033150, IVS22-1C>T). Induced pluripotent stem cells (iPSC) were reprogrammed by sendai virus encoding Klf-4, c-Myc, Oct-4, and Sox-2. The iPSC line showed pluripotency, which was verified by immunofluorescence staining. The iPSC line showed normal karyotype, and could form embryoid bodies in vitro and differentiate into the 3 germ layers in vivo. This in vitro cellular model can be used to study the pathogenesis underlying Stickler syndrome. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wu H, Yang B, Lv Z, Liu L, Gong W, Zhang S
Journal Stem cell research
Publication Date 2021 May;53:102255
PubMed 33647874
DOI 10.1016/j.scr.2021.102255

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