Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5'-UTR of the ANKRD26 gene


Thrombocytopenia 2 (THC2) is a major type of inherited thrombocytopenia caused by the persistent ANKRD26 expression during the late stage of megakaryocytopoiesis. For the first time, we generated a human induced pluripotent stem cell (hiPSC) line SHAMUi001-A from the bone marrow hematopoietic progenitor cells of a THC2 patient, who has a heterozygous mutation (c.-128G>T) in the 5'-UTR of ANKRD26 gene. SHAMUi001-A cells retain the mutation, display pluripotent stem cell characteristics, and have a normal female karyotype. This disease-specific hiPSC line will be a useful model for THC2 research. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Tan C, Dai L, Yang W, Li F, Wang L, Xiao Y, Wang X, Zhang Y, Wang Y, Zeng C, Xiang Z, Zhang X, Zhang W, Ran Q, Chen M, Li Z, Chen L
Journal Stem cell research
Publication Date 2020 Oct;48:102002
PubMed 32979630
DOI 10.1016/j.scr.2020.102002

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