Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene.
Stem Cell Res
; 42: 101687, 2020 01.
Article
en En
| MEDLINE
| ID: mdl-31869684
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Tetralogía de Fallot
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Proteínas de Dominio T Box
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Células Madre Pluripotentes Inducidas
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
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Humans
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Male
Idioma:
En
Año:
2020
Tipo del documento:
Article