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Cellosaurus GM11215 (CVCL_V390)

[Text version]
Cell line name GM11215
Accession CVCL_V390
Resource Identification Initiative To cite this cell line use: GM11215 (RRID:CVCL_V390)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4056; G6PC1; Simple; p.Gln347Ter (c.1039C>T) (C1118T); ClinVar=VCV000012000; Zygosity=Homozygous (PubMed=19815695).
Disease Glycogen storage disease type Ia (NCIt: C162398)
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (ORDO: Orphanet_79258)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 23Y
Category Transformed 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

Cross-references
Cell line collections (Providers) Coriell; GM11215
Cell line databases/resources CLO; CLO_0022977
Encyclopedic resources Wikidata; Q54844921
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number18