ID   SJHi001-A
AC   CVCL_C0HQ
SY   010
DR   hPSCreg; SJHi001-A
DR   Wikidata; Q112930392
RX   PubMed=35381520;
CC   From: Shengjing Hospital of China Medical University; Shenyang; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 4192; GCGR; Simple; p.Trp83Ter (c.248G>A); Zygosity=Heterozygous (PubMed=35381520).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129739; Monogenic diabetes
DI   ORDO; Orphanet_183625; Rare genetic diabetes mellitus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35381520; DOI=10.1016/j.scr.2022.102745;
RA   Liu Y., Liu Y., Jia Y.-B., Lv J., Sun D., Yin Y.-L., Liu N., Su B.-L.,
RA   Sun G.-W.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line from a
RT   diabetic patient with glucagon receptor (GCGR) p.W83X mutation.";
RL   Stem Cell Res. 61:102745-102745(2022).
//