ID   GM00574
AC   CVCL_V389
SY   GM-574
DR   CLO; CLO_0026017
DR   Coriell; GM00574
DR   Wikidata; Q54836314
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7814621;
RX   PubMed=33329388;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Gly222Arg (c.666G>C) (G743C); Zygosity=Heterozygous (PubMed=7814621).
CC   Sequence variation: Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Gln347Ter (c.1039C>T) (C1118T); ClinVar=VCV000012000; Zygosity=Heterozygous (PubMed=7814621).
CC   Omics: Metabolomics.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Male
AG   25Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 10-04-25; Version: 19
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=7814621; DOI=10.1172/JCI117645; PMCID=PMC295414;
RA   Lei K.-J., Shelly L.L., Lin B.-C., Sidbury J.B. Jr., Chen Y.-T.,
RA   Nordlie R.C., Chou J.Y.;
RT   "Mutations in the glucose-6-phosphatase gene are associated with
RT   glycogen storage disease types 1a and 1aSP but not 1b and 1c.";
RL   J. Clin. Invest. 95:234-240(1995).
//
RX   PubMed=33329388; DOI=10.3389/fendo.2020.579981; PMCID=PMC7719825;
RA   Hannibal L., Theimer J., Wingert V., Klotz K., Bierschenk I.,
RA   Nitschke R., Spiekerkoetter U., Grunert S.C.;
RT   "Metabolic profiling in human fibroblasts enables subtype clustering
RT   in glycogen storage disease.";
RL   Front. Endocrinol. 11:579981.1-579981.14(2020).
//