Cellosaurus cell line HG01773 (CVCL

Cellosaurus HG01773 (CVCL_Q408)

Cross-references
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; HGNC:11118; SMN2; Quadruplication; Zygosity=Unspecified (PubMed=33197628). Gene deletion; HGNC; 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)
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 creation	05-Nov-2013
Last entry update	19-Dec-2024
Version number	15