Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene


The human induced pluripotent stem cell (iPSC) line YAHKMUi001-A was derived from the dermal fibroblasts of a patient with Tetralogy of Fallot (TOF), with a mutation in the TBX1 gene (c.928G > A). The skin fibroblasts were obtained from a 4-year-old boy, and were infected with Sendai virus expressing the Yamanaka factors. The YAHKMUi001-A iPSC line expresses pluripotent stem cell markers, displays a normal karyotype, and has the capacity to differentiate into 3 germ layers. This cell line model can be a good tool to study the pathological mechanism of the TBX1 gene mutations associated with TOF. Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Han S, Zhang YY, Meng MY, Hou ZL, Meng P, Zhao YY, Gao H, Tang J, Liu Z, Yang LL, Jiang LH, Li YX
Journal Stem cell research
Publication Date 2020 Jan;42:101687
PubMed 31869684
DOI 10.1016/j.scr.2019.101687

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