ID   KRIBBi003-A
AC   CVCL_B3V0
SY   GSD IXa iPSCs
DR   hPSCreg; KRIBBi003-A
DR   Wikidata; Q110432999
RX   PubMed=34740118;
CC   From: Korea Research Institute of Bioscience and Biotechnology; Daejeon; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 8926; PHKA2; Simple; p.Ala1076Glufs*40 (c.3227_3231del); Zygosity=Hemizygous (PubMed=34740118).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C122662; Glycogen storage disease type IX
DI   ORDO; Orphanet_370; Glycogen storage disease due to phosphorylase kinase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34740118; DOI=10.1016/j.scr.2021.102584;
RA   Shin Y., Mun S.J., Lee J., Chung K.-S., Kim M., Cheon C.K., Son M.J.;
RT   "Generation of human induced pluripotent stem cell line, KRIBBi003-A,
RT   from urinary cells of a patient with glycogen storage disease type
RT   IXa.";
RL   Stem Cell Res. 57:102584-102584(2021).
//