ID   HG01773
AC   CVCL_Q408
DR   BioSamples; SAME124635
DR   Coriell; HG01773
DR   GEO; GSM1718677
DR   IGSR; HG01773
DR   Wikidata; Q54884216
RX   PubMed=33197628;
CC   Part of: International Genome Sample Resource (1000 genomes project) cell lines.
CC   Population: Caucasian; Iberian populations in Spain (IBS).
CC   Sequence variation: Gene amplification; HGNC; HGNC:11118; SMN2; Quadruplication; Zygosity=Unspecified (PubMed=33197628).
CC   Sequence variation: Gene deletion; HGNC; HGNC:11117; SMN1; Zygosity=Heterozygous (PubMed=33197628).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Omics: Genome sequenced.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 15
//
RX   PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011; PMCID=PMC9641717;
RA   Prior T.W., Bayrak-Toydemir P., Lynnes T.C., Mao R., Metcalf J.D.,
RA   Muralidharan K., Iwata-Otsubo A., Pham H.T., Pratt V.M., Qureshi S.,
RA   Requesens D.V., Shen J.-Q., Vetrini F., Kalman L.V.;
RT   "Characterization of reference materials for spinal muscular atrophy
RT   genetic testing: a genetic testing reference materials coordination
RT   program collaborative project.";
RL   J. Mol. Diagn. 23:103-110(2021).
//