ID   GM20775
AC   CVCL_P632
DR   CLO; CLO_0028877
DR   BioSample; SAMN00001294
DR   Coriell; GM20775
DR   GEO; GSM650340
DR   GEO; GSM1720459
DR   IGSR; NA20775
DR   Wikidata; Q54851277
RX   PubMed=21397061;
RX   PubMed=33197628;
CC   Part of: International Genome Sample Resource (1000 genomes project) cell lines.
CC   Population: Caucasian; Toscani in Italia (TSI).
CC   Sequence variation: Gene amplification; HGNC; HGNC:11117; SMN1; Triplication; Zygosity=Unspecified (PubMed=33197628).
CC   Sequence variation: Gene deletion; HGNC; HGNC:11118; SMN2; 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: 17
//
RX   PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424;
RA   Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M.,
RA   Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.;
RT   "Population-genetic properties of differentiated human copy-number
RT   polymorphisms.";
RL   Am. J. Hum. Genet. 88:317-332(2011).
//
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).
//