ID   UPSFRi010-A
AC   CVCL_QX68
SY   PB50
DR   hPSCreg; UPSFRi010-A
DR   Wikidata; Q54991782
RX   PubMed=28925363;
CC   From: Universite Paris-Sud 11; Paris; France.
CC   Sequence variation: Mutation; HGNC; 9967; RET; Simple; p.Met918Thr (c.2753T>C); ClinVar=VCV000013919; Zygosity=Unspecified (PubMed=28925363).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3227; Multiple endocrine neoplasia type 2B
DI   ORDO; Orphanet_247709; Multiple endocrine neoplasia type 2B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   23Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 9
//
RX   PubMed=28925363; DOI=10.1016/j.scr.2017.07.022;
RA   Bennaceur-Griscelli A., Hadoux J., Feraud O., Opolon P., Divers D.,
RA   Gobbo E., Schlumberger M., Griscelli F., Turhan A.G.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with
RT   'highest risk' RET mutation.";
RL   Stem Cell Res. 23:154-157(2017).
//