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; 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: 29-06-23; Version: 10
//
RX   PubMed=28925365; DOI=10.1016/j.scr.2017.07.023;
RA   Griscelli F., Feraud O., Ernault T., Oudrihri N., Turhan A.G.,
RA   Bonnefond A., Froguel P., Bennaceur-Griscelli A.;
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).
//