ID   GM20760
AC   CVCL_P617
DR   CLO; CLO_0028856
DR   ArrayExpress; E-GEUV-1
DR   ArrayExpress; E-GEUV-2
DR   ArrayExpress; E-GEUV-3
DR   BioSample; SAMN00001279
DR   Coriell; GM20760
DR   GEO; GSM650329
DR   GEO; GSM1720444
DR   IGSR; NA20760
DR   Wikidata; Q54851260
RX   PubMed=21397061;
RX   PubMed=24037378;
RX   PubMed=27617755;
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 deletion; HGNC; HGNC:11117; SMN1; Zygosity=Heterozygous (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: Genomics; Whole genome sequencing.
CC   Omics: Transcriptomics; RNAseq.
CC   Omics: Variations; CNV analysis.
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: 10-04-25; Version: 18
//
RX   PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011; PMCID=PMC9641717;
RA   Prior, Thomas W.
RA   Bayrak-Toydemir, Pinar
RA   Lynnes, Tyler C.
RA   Mao, Rong
RA   Metcalf, James D.
RA   Muralidharan, Kasinathan
RA   Iwata-Otsubo, Aiko
RA   Pham, Ha T.
RA   Pratt, Victoria M.
RA   Qureshi, Shumaila
RA   Requesens, Deborah Vicuna
RA   Shen, Jun-Qing
RA   Vetrini, Francesco
RA   Kalman, Lisa 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).
//
RX   PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424;
RA   Campbell, Catarina D.
RA   Sampas, Nick
RA   Tsalenko, Anya
RA   Sudmant, Peter H.
RA   Kidd, Jeffrey M.
RA   Malig, Maika
RA   Vu, Tiffany H.
RA   Vives, Laura
RA   Tsang, Peter
RA   Bruhn, Laurakay
RA   Eichler, Evan E.
RT   "Population-genetic properties of differentiated human copy-number
RT   polymorphisms.";
RL   Am. J. Hum. Genet. 88:317-332(2011).
//
RX   PubMed=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453;
RA   Lappalainen, Tuuli
RA   Sammeth, Michael
RA   Friedlander, Marc R.
RA   't Hoen, Peter A.C.
RA   Monlong, Jean
RA   Rivas, Manuel A.
RA   Gonzalez-Porta, Mar
RA   Kurbatova, Natalja
RA   Griebel, Thasso
RA   Ferreira, Pedro G.
RA   Barann, Matthias
RA   Wieland, Thomas
RA   Greger, Liliana
RA   van Iterson, Maarten
RA   Almlof, Jonas Carlsson
RA   Ribeca, Paolo
RA   Pulyakhina, Irina
RA   Esser, Daniela
RA   Giger, Thomas
RA   Tikhonov, Andrew
RA   Sultan, Marc
RA   Bertier, Gabrielle
RA   MacArthur, Daniel G.
RA   Lek, Monkol
RA   Lizano, Esther
RA   Buermans, Henk P.J.
RA   Padioleau, Ismael
RA   Schwarzmayr, Thomas
RA   Karlberg, Olof
RA   Ongen, Halit
RA   Kilpinen, Helena
RA   Beltran, Sergi
RA   Gut, Marta
RA   Kahlem, Katja
RA   Amstislavskiy, Vyacheslav
RA   Stegle, Oliver
RA   Pirinen, Matti
RA   Montgomery, Stephen B.
RA   Donnelly, Peter
RA   McCarthy, Mark I.
RA   Flicek, Paul
RA   Strom, Tim-Matthias
RA   Lehrach, Hans
RA   Schreiber, Stefan
RA   Sudbrak, Ralf
RA   Carracedo, Angel
RA   Antonarakis, Stylianos E.
RA   Hasler, Robert
RA   Syvanen, Ann-Christine
RA   van Ommen, Gert-Jan B.
RA   Brazma, Alvis
RA   Meitinger, Thomas
RA   Rosenstiel, Philip
RA   Guigo, Roderic
RA   Gut, Ivo G.
RA   Estivill, Xavier
RA   Dermitzakis, Emmanouil Theophilos
RG   Geuvadis Consortium;
RT   "Transcriptome and genome sequencing uncovers functional variation in
RT   humans.";
RL   Nature 501:506-511(2013).
//
RX   PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111;
RA   Ferreira, Pedro G.
RA   Oti, Martin
RA   Barann, Matthias
RA   Wieland, Thomas
RA   Ezquina, Suzana
RA   Friedlander, Marc R.
RA   Rivas, Manuel A.
RA   Esteve-Codina, Anna
RA   Rosenstiel, Philip
RA   Strom, Tim-Matthias
RA   Lappalainen, Tuuli
RA   Guigo, Roderic
RA   Sammeth, Michael
RG   Geuvadis Consortium;
RT   "Sequence variation between 462 human individuals fine-tunes
RT   functional sites of RNA processing.";
RL   Sci. Rep. 6:32406-32406(2016).
//