A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene


Choroideremia (CHM) is a monogenic, X-linked inherited retinal disease caused by mutations in the CHM gene. CHM patients develop progressive loss of vision due to degeneration of cell layers in the retina. In this report, the human-induced pluripotent stem cell, MUi032-A, was generated from CD34+ hematopoietic stem/progenitor cells of a male CHM patient by co-electroporation of non-integration episomal vectors containing OCT4/shp53, Sox-2/KLF4, and L-MYC/LIN-28. The MUi032-A showed normal karyotype and a hemizygous c.715C > T mutation. They expressed pluripotency markers and differentiated into cells derived from three germ layers. This cell line may be useful for disease mechanisms and gene therapy studies. Copyright © 2022. Published by Elsevier B.V.

Authors Pongpaksupasin P, Wongkummool W, Tong-Ngam P, Jearawiriyapaisarn N, Paiboonsukwong K, Sangkitporn S, Trinavarat A, Atchaneeyasakul LO, Tubsuwan A
Journal Stem cell research
Publication Date 2022 Nov 11;65:102964
PubMed 36395688
DOI 10.1016/j.scr.2022.102964

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