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Stem Cell Res. 2019 Dec 12;42:101687. doi: 10.1016/j.scr.2019.101687. [Epub ahead of print]

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

Author information

1
Department of Cardiovascular Surgery, Yan'an Affiliated Hospital of Kunming Medical University, Kunming, China; Key Laboratory of Cardiovascular Disease of Yunnan Province, China.
2
Department of Central Laboratory, Yan'an Affiliated Hospital of Kunming Medical University, Kunming, China.
3
Department of Cardiovascular Surgery, First People's Hospital of Yunnan Province, Kunming, China. Electronic address: jianglihong_yayy@163.com.
4
Department of Cardiovascular Surgery, Yan'an Affiliated Hospital of Kunming Medical University, Kunming, China; Key Laboratory of Cardiovascular Disease of Yunnan Province, China. Electronic address: lyxyayy@163.com.

Abstract

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.

PMID:
31869684
DOI:
10.1016/j.scr.2019.101687
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