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Cellosaurus GM11416 (CVCL_V391)

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Cell line name GM11416
Accession CVCL_V391
Resource Identification Initiative To cite this cell line use: GM11416 (RRID:CVCL_V391)
Comments 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 (Coriell=GM11416).
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 22Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM11416
Cell line databases/resources CLO; CLO_0020793
Encyclopedic resources Wikidata; Q54845071
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number19