Cellosaurus cell line GM11215 (CVCL

Cellosaurus GM11215 (CVCL_V390)

Cross-references
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; 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)
Cell line collections (Providers)	Coriell; GM11215
Cell line databases/resources	CLO; CLO_0022977
Encyclopedic resources	Wikidata; Q54844921
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	19