title: Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation.
abstract: 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 RETC634Ymutation and expressed pluripotency hallmarks as well as RET. A comprehensive pathological assessment of teratoma was performed after injection in immunodeficient mice.
authors: INSERM U935, Université Paris Sud, 94800 Villejuif, France; Gustave Roussy, Department of Nuclear medicine and Endocrine Oncology, 94800 Villejuif, France. Electronic address: julien.hadoux@gustaveroussy.fr.
authors: J
authors: J
authors: Hadoux
authors: INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France. Electronic address: olivier.feraud@inserm.fr.
authors: O
authors: O
authors: Féraud
authors: INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France; INGESTEM National IPSC Infrastructure, 94800 Villejuif, France. Electronic address: franck.griscelli@gustaveroussy.fr.
authors: F
authors: F
authors: Griscelli
authors: Gustave Roussy, Laboratoire de Pathologie Expérimentale, F-94800 Villejuif, France. Electronic address: paule.opolon@gmail.com.
authors: P
authors: P
authors: Opolon
authors: INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France. Electronic address: dominique.divers@inserm.fr.
authors: D
authors: D
authors: Divers
authors: INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France. Electronic address: emilie.gobbo@wanadoo.fr.
authors: E
authors: E
authors: Gobbo
authors: Gustave Roussy, Department of Nuclear medicine and Endocrine Oncology, 94800 Villejuif, France. Electronic address: martin.schlumberger@gustaveroussy.fr.
authors: M
authors: M
authors: Schlumberger
authors: INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France; INGESTEM National IPSC Infrastructure, 94800 Villejuif, France; Division of Hematology, Paris Sud University hospitals, Le Kremlin Bicêtre 94275, Villejuif 94800, France. Electronic address: abenna@hotmail.fr.
authors: A
authors: A
authors: Bennaceur-Griscelli
authors: INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France; INGESTEM National IPSC Infrastructure, 94800 Villejuif, France; Division of Hematology, Paris Sud University hospitals, Le Kremlin Bicêtre 94275, Villejuif 94800, France. Electronic address: ali.turhan@aphp.fr.
authors: A G
authors: AG
authors: Turhan