Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with "highest risk" RET mutation.
Stem Cell Res
; 23: 154-157, 2017 08.
Article
em En
| MEDLINE
| ID: mdl-28925363
ABSTRACT
Multiple Endocrine Neoplasia Type 2B (MEN2B) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC) and pheochromocytoma. Currently, there is no satisfactory model recapitulating all the features of the disease especially at the level of stem cells. We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 918 who developed pheochromocytoma and MTC. These iPSC had normal karyotype, harboured the RETM918T mutation and expressed pluripotency hallmarks. A comprehensive pathological assessment of teratoma was performed after injection in immunodeficient mice.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasia Endócrina Múltipla Tipo 2b
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Técnicas de Cultura de Células
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Proteínas Proto-Oncogênicas c-ret
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Células-Tronco Pluripotentes Induzidas
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Mutação
Tipo de estudo:
Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2017
Tipo de documento:
Article