ID   MUSIi015-A
AC   CVCL_A0ZX
SY   M007-III-7
DR   hPSCreg; MUSIi015-A
DR   Wikidata; Q108820999
RX   PubMed=35853413;
CC   From: Faculty of Medicine Siriraj Hospital, Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; HGNC:4174; GATA6; Simple; p.Glu51Lys (c.151G>T); Zygosity=Heterozygous (PubMed=35853413).
CC   Sequence variation: Mutation; HGNC; HGNC:32058; ZYG11A; Simple; p.Leu475Pro (c.1424T>C); Zygosity=Heterozygous (PubMed=35853413).
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   55Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=35853413; DOI=10.1016/j.scr.2022.102871;
RA   Suwanpitak S., Chanprasert C., Netsrithong R., Plengvidhya N.,
RA   Yenchitsomanus P.-T., Wattanapanitch M., Jungtrakoon Thamtarana P.;
RT   "Generation of an induced pluripotent stem cell line (MUSIi015-A) from
RT   a diabetic patient carrying mutations in ZYG11A (p.L475P) and GATA6
RT   (p.E51K).";
RL   Stem Cell Res. 63:102871-102871(2022).
//