ID   MUSIi014-A
AC   CVCL_A0ZW
SY   M007-III-1
DR   hPSCreg; MUSIi014-A
DR   Wikidata; Q108820998
RX   PubMed=35193007;
CC   From: Faculty of Medicine Siriraj Hospital, Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 32058; ZYG11A; Simple; p.Leu475Pro (c.1424T>C); Zygosity=Heterozygous (PubMed=35193007).
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   64Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35193007; DOI=10.1016/j.scr.2022.102715;
RA   Chanprasert C., Promnakhon N., Thongsin N., Suwanpitak S.,
RA   Plengvidhya N., Yenchitsomanus P.-T., Jungtrakoon Thamtarana P.,
RA   Wattanapanitch M.;
RT   "Generation of an induced pluripotent stem cell line (MUSIi014-A) from
RT   an affected member of a family with autosomal dominant diabetes
RT   carrying p.L475P mutation in ZYG11A gene associated with a cell cycle
RT   arrest in beta-cell.";
RL   Stem Cell Res. 60:102715-102715(2022).
//