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Cellosaurus GM16480 (CVCL_4F38)

[Text version]
Cell line name GM16480
Accession CVCL_4F38
Resource Identification Initiative To cite this cell line use: GM16480 (RRID:CVCL_4F38)
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; 6990; MECP2; Simple; p.Arg306Cys (c.916C>T) (p.Arg318Cys, c.952C>T); ClinVar=VCV000011824; Zygosity=Heterozygous (PubMed=24508304).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Transformed cell line
Publications

PubMed=24508304; DOI=10.1016/j.jmoldx.2013.11.004; PMCID=PMC3937532
Kalman L.V., Tarleton J.C., Percy A.K., Aradhya S., Bale S., Barker S.D., Bayrak-Toydemir P., Bridges C., Buller-Burckle A.M., Das S., Iyer R.K., Vo T.D., Zvereff V.V., Toji L.H.
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
J. Mol. Diagn. 16:273-279(2014)

Cross-references
Cell line collections (Providers) Coriell; GM16480
Cell line databases/resources CLO; CLO_0017524
Encyclopedic resources Wikidata; Q54848587
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number13