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Cellosaurus GM23663 (CVCL_BW02)

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Cell line name GM23663
Accession CVCL_BW02
Resource Identification Initiative To cite this cell line use: GM23663 (RRID:CVCL_BW02)
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.Arg133Cys (c.397C>T) (p.Arg145Cys, c.433C>T); ClinVar=VCV000011809; 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 Age unspecified
Category Transformed cell line
Publications

PubMed=24508304; DOI=10.1016/j.jmoldx.2013.11.004; PMCID=PMC3937532
Lisa V. Kalman, Jack C. Tarleton, Alan Kenneth Percy, Swaroop Aradhya, Sherri Bale, Shannon D. Barker, Pinar Bayrak-Toydemir, Christina Bridges, Arlene M. Buller-Burckle, Soma Das, Ramaswamy K. Iyer ...Show all 14 authors... , Timothy D. Vo, Val V. Zvereff, Lorraine Hellenga Toji; Show fewer authors
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; GM23663
Encyclopedic resources Wikidata; Q54853208
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11