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Cellosaurus GM21871 (CVCL_5R39)

[Text version]
Cell line name GM21871
Accession CVCL_5R39
Resource Identification Initiative To cite this cell line use: GM21871 (RRID:CVCL_5R39)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys103Glufs*2 (c.307_311delAAAGA) (I102fs*1); ClinVar=VCV000021243; Zygosity=Homozygous (Coriell=GM21871).
Disease Roberts-SC phocomelia syndrome (NCIt: C4681)
Roberts syndrome (ORDO: Orphanet_3103)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_7663 ! GM21872
Sex of cell Female
Age at sampling 25FW
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; GM21871 - Discontinued
Encyclopedic resources Wikidata; Q54852191
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13