ID   PB48
AC   CVCL_GQ02
SY   IPSC RETC634Y
DR   Wikidata; Q54938356
RX   PubMed=27558615;
RX   PubMed=29197744;
CC   From: Universite Paris-Sud 11; Paris; France.
CC   Sequence variation: Mutation; HGNC; HGNC:9967; RET; Simple; p.Cys634Tyr (c.1901G>A); ClinVar=VCV000013909; Zygosity=Heterozygous (PubMed=27558615).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C46099; Hereditary thyroid gland medullary carcinoma
DI   NCIt; C3226; Multiple endocrine neoplasia type 2A
DI   ORDO; Orphanet_99361; Familial medullary thyroid carcinoma
DI   ORDO; Orphanet_247698; Multiple endocrine neoplasia type 2A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27558615; DOI=10.1016/j.scr.2016.06.008;
RA   Hadoux J., Feraud O., Griscelli F., Opolon P., Divers D., Gobbo E.,
RA   Schlumberger M., Bennaceur-Griscelli A., Turhan A.G.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with
RT   RET mutation.";
RL   Stem Cell Res. 17:154-157(2016).
//
RX   PubMed=29197744; DOI=10.1016/j.scr.2017.11.015;
RA   Hadoux J., Desterke C., Feraud O., Guibert M., De Rose R.F.,
RA   Opolon P., Divers D., Gobbo E., Griscelli F., Schlumberger M.,
RA   Bennaceur-Griscelli A., Turhan A.G.;
RT   "Transcriptional landscape of a RET(C634Y)-mutated iPSC and its
RT   CRISPR-corrected isogenic control reveals the putative role of EGR1
RT   transcriptional program in the development of multiple endocrine
RT   neoplasia type 2A-associated cancers.";
RL   Stem Cell Res. 26:8-16(2018).
//