Cellosaurus logo
expasy logo

Cellosaurus GM23711 (CVCL_5T12)

[Text version]
Cell line name GM23711
Accession CVCL_5T12
Resource Identification Initiative To cite this cell line use: GM23711 (RRID:CVCL_5T12)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene deletion; HGNC; HGNC:20444; MBD5; Zygosity=Heterozygous (Coriell=GM23711).
Disease Mental retardation, autosomal dominant 1 (NCIt: C141424)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_AZ37 ! GM24585
Sex of cell Female
Age at sampling 1Y6M
Category Transformed cell line
Publications

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cross-references
Cell line collections (Providers) Coriell; GM23711
Encyclopedic resources Wikidata; Q54853256
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13