Cellosaurus cell line GM11468 (CVCL

Cellosaurus GM11468 (CVCL_V392)

Cross-references
Cell line name	GM11468
Accession	CVCL_V392
Resource Identification Initiative	To cite this cell line use: GM11468 (RRID:CVCL_V392)
Comments	Part of: Genetic Testing Reference Material (GeT-RM) samples. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Arg83Cys (c.247C>T); ClinVar=VCV000011998; Zygosity=Heterozygous (PubMed=19815695). Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Gln347Ter (c.1039C>T) (C1118T); ClinVar=VCV000012000; Zygosity=Heterozygous (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	Female
Age at sampling	3Y
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)
Cell line collections (Providers)	Coriell; GM11468
Cell line databases/resources	CLO; CLO_0020905
Encyclopedic resources	Wikidata; Q54845099
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	20