ID   UPSFRi012-A
AC   CVCL_QX69
SY   PB52
DR   hPSCreg; UPSFRi012-A
DR   SKIP; SKIP003206
DR   Wikidata; Q54991787
RX   PubMed=28925365;
CC   From: Universite Paris-Sud 11; Paris; France.
CC   Sequence variation: Mutation; HGNC; HGNC:6257; KCNJ11; Simple; p.Glu227Lys (c.679G>A); ClinVar=VCV000158682; Zygosity=Heterozygous (PubMed=28925365).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114769; Maturity-onset diabetes of the young
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
//
RX   PubMed=28925365; DOI=10.1016/j.scr.2017.07.023;
RA   Griscelli, Frank
RA   Feraud, Olivier
RA   Ernault, Tony
RA   Oudrhiri, Noufissa
RA   Turhan, Ali G.
RA   Bonnefond, Amelie
RA   Froguel, Philippe
RA   Bennaceur-Griscelli, Annelise
RT   "Generation of an induced pluripotent stem cell (iPSC) line from a
RT   patient with maturity-onset diabetes of the young type 13 (MODY13)
RT   with a the potassium inwardly-rectifying channel, subfamily J, member
RT   11 (KCNJ11) mutation.";
RL   Stem Cell Res. 23:178-181(2017).
//