Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation
Multiple Endocrine Neoplasia Type 2A (MEN2A) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism and cutaneous lichen amyloidosis (CLA) and/or Hirs...
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| Format: | Article |
| Language: | English |
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Elsevier
2016-07-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350611630071X |
| _version_ | 1798043441594105856 |
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| author | J. Hadoux O. Féraud F. Griscelli P. Opolon D. Divers E. Gobbo M. Schlumberger A. Bennaceur-Griscelli A.G. Turhan |
| author_facet | J. Hadoux O. Féraud F. Griscelli P. Opolon D. Divers E. Gobbo M. Schlumberger A. Bennaceur-Griscelli A.G. Turhan |
| author_sort | J. Hadoux |
| collection | DOAJ |
| description | Multiple Endocrine Neoplasia Type 2A (MEN2A) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism and cutaneous lichen amyloidosis (CLA) and/or Hirschsprung disease in some variants.
Currently, there is no satisfactory animal 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 634 who developed pheochromocytoma and MTC. RETC634Y-mutated cells were reprogrammed by non-integrative viral transduction. These iPSCs had normal karyotype, harboured the RETC634Y mutation and expressed pluripotency hallmarks as well as RET. A comprehensive pathological assessment of teratoma was performed after injection in immunodeficient mice. |
| first_indexed | 2024-04-11T22:49:07Z |
| format | Article |
| id | doaj.art-8b0eeaa88b9a4b92889d61c5362aa483 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 1876-7753 |
| language | English |
| last_indexed | 2024-04-11T22:49:07Z |
| publishDate | 2016-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-8b0eeaa88b9a4b92889d61c5362aa4832022-12-22T03:58:39ZengElsevierStem Cell Research1873-50611876-77532016-07-0117115415710.1016/j.scr.2016.06.008Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutationJ. Hadoux0O. Féraud1F. Griscelli2P. Opolon3D. Divers4E. Gobbo5M. Schlumberger6A. Bennaceur-Griscelli7A.G. Turhan8INSERM U935, Université Paris Sud, 94800 Villejuif, FranceINSERM U935, Université Paris Sud, 94800 Villejuif, FranceINSERM U935, Université Paris Sud, 94800 Villejuif, FranceGustave Roussy, Laboratoire de Pathologie Expérimentale, F-94800 Villejuif, FranceINSERM U935, Université Paris Sud, 94800 Villejuif, FranceINSERM U935, Université Paris Sud, 94800 Villejuif, FranceGustave Roussy, Department of Nuclear medicine and Endocrine Oncology, 94800 Villejuif, FranceINSERM U935, Université Paris Sud, 94800 Villejuif, FranceINSERM U935, Université Paris Sud, 94800 Villejuif, FranceMultiple Endocrine Neoplasia Type 2A (MEN2A) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism and cutaneous lichen amyloidosis (CLA) and/or Hirschsprung disease in some variants. Currently, there is no satisfactory animal 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 634 who developed pheochromocytoma and MTC. RETC634Y-mutated cells were reprogrammed by non-integrative viral transduction. These iPSCs had normal karyotype, harboured the RETC634Y mutation and expressed pluripotency hallmarks as well as RET. A comprehensive pathological assessment of teratoma was performed after injection in immunodeficient mice.http://www.sciencedirect.com/science/article/pii/S187350611630071X |
| spellingShingle | J. Hadoux O. Féraud F. Griscelli P. Opolon D. Divers E. Gobbo M. Schlumberger A. Bennaceur-Griscelli A.G. Turhan Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation |
| title_full | Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation |
| title_fullStr | Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation |
| title_short | Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation |
| title_sort | generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2a men2a syndrome with ret mutation |
| url | http://www.sciencedirect.com/science/article/pii/S187350611630071X |
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