Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene
•The iPSC line YAHKMUi001-A maintained the same heterozygous mutation in exon of the TBX1 gene as parental fibroblasts.•YAHKMUi001-A offers a model to study the pathological mechanisms of TBX1 gene mutation associated cardiac malformations and screening of pharmaceutical and gene therapy.•The iPSC l...
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Veröffentlicht in: | Stem cell research 2020-01, Vol.42, p.101687-101687, Article 101687 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | •The iPSC line YAHKMUi001-A maintained the same heterozygous mutation in exon of the TBX1 gene as parental fibroblasts.•YAHKMUi001-A offers a model to study the pathological mechanisms of TBX1 gene mutation associated cardiac malformations and screening of pharmaceutical and gene therapy.•The iPSC line YAHKMUi001-A is pluripotent to differentiate into all three germ layers.
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. |
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ISSN: | 1873-5061 1876-7753 |
DOI: | 10.1016/j.scr.2019.101687 |