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Cellosaurus GM03719 (CVCL_1M97)

[Text version]
Cell line name GM03719
Accession CVCL_1M97
Resource Identification Initiative To cite this cell line use: GM03719 (RRID:CVCL_1M97)
Comments Omics: Metabolome analysis.
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
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=7814621; DOI=10.1172/JCI117645
Lei K.-J., Shelly L.L., Lin B.-C., Sidbury J.B., Chen Y.-T., Nordlie R.C., Chou J.Y.
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
Hannibal L., Theimer J., Wingert V., Klotz K., Bierschenk I., Nitschke R., Spiekerkoetter U., Grunert S.C.
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 update29-Jun-2023
Version number11