ID   SDQLCHi063-A
AC   CVCL_C9JN
DR   BioSamples; SAMEA115300943
DR   hPSCreg; SDQLCHi063-A
DR   Wikidata; Q123033473
RX   PubMed=38507882;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4195; GCK; Unexplicit; Ex1del; Zygosity=Heterozygous (PubMed=38507882).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129741; Glucokinase-associated diabetes mellitus
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 4
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RX   PubMed=38507882; DOI=10.1016/j.scr.2024.103389;
RA   Gao M., Li X.-Y., Lv Y.-Q., Yang X.-M., Liu Y., Gai Z.-T.;
RT   "Generation and characterization of an induced pluripotent stem cell
RT   (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a
RT   patient with maturity-onset diabetes of the young type 2 carrying GCK
RT   exon 1 deletion.";
RL   Stem Cell Res. 77:103389-103389(2024).
//