Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1

Summary

Oculopharyngodistal myopathy (OPDM) is a late-onset degenerative muscle disorder characterized by ptosis and weakening of the facial, pharyngeal, and distal limb muscles. Our study reprogrammed human-induced pluripotent stem cells (iPSC) from the peripheral blood mononuclear cells (PBMCs) of a patient with a CGG repeat expansion in the 5'UTR of GIPC1 gene that co-segregated with the disease. The generated iPSCs express the pluripotent cell markers with no mycoplasma contamination. Besides, it showed normal karyotypes and the capacity to differentiate into three germ layers. We also identified that it had the same specific mutation as the patient did. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Jiao K, Yue D, Gu X, Cheng N, Chang X, Zhong H, Huan X, Su M, Zhou Y, Luo S, Zhao C, Xi J, Zhu W
Journal Stem cell research
Publication Date 2022 Aug 24;64:102897
PubMed 36055118
DOI 10.1016/j.scr.2022.102897

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