Generation of a human induced pluripotent stem cell line (QBRIi009-A) from a patient with a heterozygous deletion of FOXA2.
Stem Cell Res
; 42: 101705, 2020 01.
Article
em En
| MEDLINE
| ID: mdl-31991389
ABSTRACT
FOXA2 is a transcription factor, playing an important role during development. We established an induced pluripotent stem cell (iPSC) line, QBRIi009-A, using non-integrating Sendai virus from a 4-year-old boy, displaying a complex clinical phenotype. Molecular karyotyping and cytogenetics confirmed a de novo proximal 20p11.2 deletion with a reciprocal translocation between the short arm of chromosome 6 and 20. The deleted region (~969 kb) contains only one gene, FOXA2. The generated hiPSC line was fully characterized for its pluripotency and its genetic identity. This iPSC line provides a useful model to study FOXA2 role during human development and in disease pathogenesis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fator 3-beta Nuclear de Hepatócito
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Células-Tronco Pluripotentes Induzidas
Tipo de estudo:
Prognostic_studies
Limite:
Animals
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Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article