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Cellosaurus GM23462 (CVCL_BV74)

[Text version]
Cell line name GM23462
Accession CVCL_BV74
Resource Identification Initiative To cite this cell line use: GM23462 (RRID:CVCL_BV74)
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:6990; MECP2; Simple; p.Arg270Ter (c.808C>T) (p.Arg282Ter, c.844C>T); ClinVar=VCV000011815; 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 7Y
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; GM23462
Encyclopedic resources Wikidata; Q54853097
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12