ID   CHULAi001-A
AC   CVCL_C6P1
SY   GPDi001-A
DR   BioSamples; SAMEA111477548
DR   hPSCreg; CHULAi001-A
DR   Wikidata; Q117704245
RX   PubMed=36334578;
CC   From: Faculty of Allied Health Sciences, Chulalongkorn University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 4057; G6PD; Simple; p.Val321Met (c.871G>A); ClinVar=VCV000010386; Zygosity=Hemizygous; Note=G6PD Viangchan (PubMed=36334578).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98933; Glucose-6-phosphate dehydrogenase deficiency
DI   ORDO; Orphanet_466026; Class I glucose-6-phosphate dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36334578; DOI=10.1016/j.scr.2022.102953;
RA   Tongbaen M., Matsumura Y., Okita K., Leecharoenkiat K.;
RT   "Generation of human induced pluripotent stem cells (CHULAi001-A) from
RT   peripheral blood mononuclear cells of a glucose-6-phosphate
RT   dehydrogenase (G6PD) deficient subject carrying the Viangchan
RT   mutation.";
RL   Stem Cell Res. 65:102953-102953(2022).
//