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Cellosaurus GM03719 (CVCL_1M97)

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Cell line name GM03719
Accession CVCL_1M97
Resource Identification Initiative To cite this cell line use: GM03719 (RRID:CVCL_1M97)
Comments Omics: Metabolomics.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Disease Glycogen storage disease type Ib (NCIt: C122661)
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (ORDO: Orphanet_79259)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=7814621; DOI=10.1172/JCI117645; PMCID=PMC295414
Ke-Jian Lei, Leslie L. Shelly, Bao-Chuan Lin, James Buren Sidbury Jr., Yuan-Tsong Chen, Robert C. Nordlie, Janice Yang Chou;
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
J. Clin. Invest. 95:234-240(1995)

PubMed=33329388; DOI=10.3389/fendo.2020.579981; PMCID=PMC7719825
Luciana Hannibal, Jule Theimer, Victoria Wingert, Katharina Klotz, Iris Bierschenk, Roland Nitschke, Ute Spiekerkoetter, Sarah Catharina Grunert;
Metabolic profiling in human fibroblasts enables subtype clustering in glycogen storage disease.
Front. Endocrinol. 11:579981.1-579981.14(2020)

Cross-references
Cell line collections (Providers) Coriell; GM03719
Cell line databases/resources CLO; CLO_0015463
Biological sample resources BioSample; SAMN00808505
Encyclopedic resources Wikidata; Q54838204
Entry history
Entry creation08-Jul-2015
Last entry update10-Apr-2025
Version number12