ID   CHIpMSC3
AC   CVCL_B3MR
SY   D-CHI
DR   Wikidata; Q110432708
RX   CelloPub=CLPUB00652;
RX   PubMed=31525223;
CC   Sequence variation: Mutation; HGNC; HGNC:59; ABCC8; Simple; p.Arg1493Gln (c.4478G>A) (R1494Q); ClinVar=VCV000370910; Zygosity=Homozygous (PubMed=31525223).
CC   Derived from site: In situ; Pancreas; UBERON=UBERON_0001264.
CC   Cell type: Mesenchymal stem cell; CL=CL_0000134.
ST   Source(s): CelloPub=CLPUB00652
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 8,11
ST   D16S539: 11,13
ST   D18S51: 15,16
ST   D21S11: 31.2,32.2
ST   D3S1358: 15
ST   D5S818: 12,13
ST   D7S820: 8,10
ST   D8S1179: 12,15
ST   FGA: 23,25
ST   Penta D: 8,10
ST   Penta E: 11,14
ST   TH01: 7,9.3
ST   TPOX: 8,11
ST   vWA: 16,18
DI   NCIt; C122923; Persistent hyperinsulinemic hypoglycemia of infancy
DI   ORDO; Orphanet_276575; Autosomal dominant hyperinsulinism due to SUR1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11W
CA   Somatic stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
RX   CelloPub=CLPUB00652;
RA   Kellaway S.G.;
RT   "Stem cells from patients with congenital hyperinsulinism.";
RL   Thesis PhD (2016); University of Manchester; Manchester; United Kingdom.
//
RX   PubMed=31525223; DOI=10.1371/journal.pone.0222350; PMCID=PMC6746350;
RA   Kellaway S.G., Mosinska K., Mohamed Z., Ryan A., Richardson S.M.,
RA   Newbould M., Banerjee I., Dunne M.J., Cosgrove K.E.;
RT   "Increased proliferation and altered cell cycle regulation in
RT   pancreatic stem cells derived from patients with congenital
RT   hyperinsulinism.";
RL   PLoS ONE 14:e0222350.1-e0222350.16(2019).
//