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Cellosaurus GM23908 (CVCL_5T35)

[Text version]
Cell line name GM23908
Accession CVCL_5T35
Resource Identification Initiative To cite this cell line use: GM23908 (RRID:CVCL_5T35)
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:7960; NR0B1; Simple; p.Gln252Argfs*12 (c.754delC); ClinVar=VCV000492852; Zygosity=Hemizygous (Coriell=GM23908).
Disease Congenital adrenal gland hypoplasia (NCIt: C35261)
X-linked adrenal hypoplasia congenita (ORDO: Orphanet_95702)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
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; GM23908
Encyclopedic resources Wikidata; Q54853434
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13