ID   GM03719
AC   CVCL_1M97
DR   CLO; CLO_0015463
DR   BioSample; SAMN00808505
DR   Coriell; GM03719
DR   Wikidata; Q54838204
RX   CelloPub=CLPUB00447;
RX   PubMed=7814621;
RX   PubMed=33329388;
CC   Omics: Metabolome analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 29-06-23; Version: 11
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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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=7814621; DOI=10.1172/JCI117645;
RA   Lei K.-J., Shelly L.L., Lin B.-C., Sidbury J.B., 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;
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).
//