ID   HPS3926
AC   CVCL_YS98
SY   BRCi009-A
DR   hPSCreg; BRCi009-A
DR   RCB; HPS3926
DR   Wikidata; Q94220561
RX   PubMed=33291009;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 4056; G6PC1; Simple; p.Leu216Leu (c.648G>T); ClinVar=VCV000012003; Zygosity=Homozygous; Note=Produces an aberrant transcript (PubMed=33291009).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C162398; Glycogen storage disease type Ia
DI   ORDO; Orphanet_79258; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=33291009; DOI=10.1016/j.scr.2020.102095;
RA   Katagami Y., Kondo T., Suga M., Yada Y., Imamura K., Shibukawa R.,
RA   Sagara Y., Okanishi Y., Tsukita K., Hirayama K., Era T., Inoue H.;
RT   "Generation of a human induced pluripotent stem cell line, BRCi009-A,
RT   derived from a patient with glycogen storage disease type 1a.";
RL   Stem Cell Res. 49:102095-102095(2020).
//