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Cellosaurus GM19123 (CVCL_0X41)

[Text version]
Cell line name GM19123
Accession CVCL_0X41
Resource Identification Initiative To cite this cell line use: GM19123 (RRID:CVCL_0X41)
Comments Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Population: African; Yoruba in Ibadan, Nigeria (YRI).
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; Whole genome sequencing.
Omics: Variations; CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene amplification; HGNC; HGNC:11117; SMN1; Triplication; Zygosity=Unspecified; Note=Has 2 copies on one chromosome and 1 on the other (PubMed=33197628).
  • Gene deletion; HGNC; HGNC:11118; SMN2; Zygosity=Homozygous (PubMed=33197628).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424
Catarina D. Campbell, Nick Sampas, Anya Tsalenko, Peter H. Sudmant, Jeffrey M. Kidd, Maika Malig, Tiffany H. Vu, Laura Vives, Peter Tsang, Laurakay Bruhn, Evan E. Eichler;
Population-genetic properties of differentiated human copy-number polymorphisms.
Am. J. Hum. Genet. 88:317-332(2011)

PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011; PMCID=PMC9641717
Thomas W. Prior, Pinar Bayrak-Toydemir, Tyler C. Lynnes, Rong Mao, James D. Metcalf, Kasinathan Muralidharan, Aiko Iwata-Otsubo, Ha T. Pham, Victoria M. Pratt, Shumaila Qureshi, Deborah Vicuna Requesens ...Show all 14 authors... , Jun-Qing Shen, Francesco Vetrini, Lisa V. Kalman; Show fewer authors
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; GM19123
Cell line databases/resources CLO; CLO_0025623
Biological sample resources IGSR; NA19123
Encyclopedic resources Wikidata; Q54850176
Gene expression databases GEO; GSM649286
Entry history
Entry creation08-Jul-2015
Last entry update10-Apr-2025
Version number16