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Cellosaurus GM23676 (CVCL_5S98)

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Cell line name GM23676
Accession CVCL_5S98
Resource Identification Initiative To cite this cell line use: GM23676 (RRID:CVCL_5S98)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Variations; CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene amplification; HGNC; HGNC:6990; MECP2; Duplication; Zygosity=Heterozygous (PubMed=24508304).
Disease Lubs X-linked intellectual disability syndrome (NCIt: C126747)
Proximal Xq28 duplication syndrome (ORDO: Orphanet_1762)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 44Y
Category Transformed cell line
Publications

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Zhen-Ya Tang, Dorit S. Berlin, Lorraine Hellenga Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Fabrique Christman, Norman Phillip Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

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; GM23676
Encyclopedic resources Wikidata; Q54853219
Entry history
Entry creation23-Feb-2016
Last entry update27-Nov-2025
Version number14