ID   CHIpMSC1
AC   CVCL_B3MQ
SY   F-CHI
DR   Wikidata; Q110432706
RX   CelloPub=CLPUB00652;
RX   PubMed=31525223;
CC   Sequence variation: Mutation; HGNC; HGNC:59; ABCC8; Simple; p.Gly316Arg (c.946G>A); ClinVar=VCV001687413; Zygosity=Heterozygous (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: 11,13
ST   D13S317: 8,12
ST   D16S539: 12
ST   D18S51: 12
ST   D21S11: 27,29
ST   D3S1358: 14,18
ST   D5S818: 11,12
ST   D7S820: 11
ST   D8S1179: 13,15
ST   FGA: 19,21
ST   Penta D: 9,12
ST   Penta E: 7,12
ST   TH01: 7,9.3
ST   TPOX: 10,11
ST   vWA: 14
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   4M
CA   Somatic stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 6
//
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-E0222350(2019).
//