ID   GSD1-hiPSC5
AC   CVCL_C873
SY   GSD.1.H.iPSC.5
DR   RSCB; RSCB0057
DR   Wikidata; Q54871758
RX   PubMed=20821352;
CC   From: Royan Institute; Theran; Iran.
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; 4061; SLC37A4; Simple; c.1124-2A>G; Zygosity=Unspecified; Note=Splice acceptor mutation (PubMed=20821352).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C122661; Glycogen storage disease type Ib
DI   ORDO; Orphanet_79259; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C870 ! GSD1-hiPSC1
OI   CVCL_C871 ! GSD1-hiPSC2
OI   CVCL_C872 ! GSD1-hiPSC3
OI   CVCL_C874 ! GSD1-hiPSC6
OI   CVCL_C875 ! GSD1-hiPSC7
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 13
//
RX   PubMed=20821352; DOI=10.1007/s12015-010-9189-3;
RA   Ghodsizadeh A., Taei A., Totonchi M., Seifinejad A., Gourabi H.,
RA   Pournasr B., Aghdami N., Malekzadeh R., Almadani N., Salekdeh G.H.,
RA   Baharvand H.;
RT   "Generation of liver disease-specific induced pluripotent stem cells
RT   along with efficient differentiation to functional hepatocyte-like
RT   cells.";
RL   Stem Cell Rev. Rep. 6:622-632(2010).
//