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Cellosaurus HG01773 (CVCL_Q408)

[Text version]
Cell line name HG01773
Accession CVCL_Q408
Resource Identification Initiative To cite this cell line use: HG01773 (RRID:CVCL_Q408)
Comments Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Population: Caucasian; Iberian populations in Spain (IBS).
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CNV analysis.
Omics: Genome sequenced.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene amplification; HGNC; 11118; SMN2; Quadruplication; Zygosity=Unspecified (PubMed=33197628).
  • Gene deletion; HGNC; 11117; SMN1; Zygosity=Heterozygous (PubMed=33197628).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011; PMCID=PMC9641717
Prior T.W., Bayrak-Toydemir P., Lynnes T.C., Mao R., Metcalf J.D., Muralidharan K., Iwata-Otsubo A., Pham H.T., Pratt V.M., Qureshi S., Requesens D.V., Shen J.-Q., Vetrini F., Kalman L.V.
Characterization of reference materials for spinal muscular atrophy genetic testing: a genetic testing reference materials coordination program collaborative project.
J. Mol. Diagn. 23:103-110(2021)

Cross-references
Cell line collections (Providers) Coriell; HG01773
Biological sample resources BioSamples; SAME124635
IGSR; HG01773
Encyclopedic resources Wikidata; Q54884216
Gene expression databases GEO; GSM1718677
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number14