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 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=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751 Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine H. Toji, Kasinathan Muralidharan; Show fewer authors 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