ID   GM23687
AC   CVCL_Y937
DR   Coriell; GM23687
DR   Wikidata; Q54853229
RX   PubMed=26247043;
RX   PubMed=28284873;
RX   PubMed=33197628;
CC   Sequence variation: Gene deletion; HGNC; HGNC:11117; SMN1; Zygosity=Heterozygous (PubMed=28284873; PubMed=33197628).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=28284873
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 9,14
ST   D16S539: 11
ST   D5S818: 11,12
ST   D7S820: 10,12
ST   D8S1179: 10
ST   TH01: 7,9
ST   TPOX: 8
ST   vWA: 17,19
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 11
//
RX   PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962;
RA   Stabley D.L., Harris A.W., Holbrook J., Chubbs N.J., Lozo K.W.,
RA   Crawford T.O., Swoboda K.J., Funanage V.L., Wang W.-L., Mackenzie W.,
RA   Scavina M., Sol-Church K., Butchbach M.E.R.;
RT   "SMN1 and SMN2 copy numbers in cell lines derived from patients with
RT   spinal muscular atrophy as measured by array digital PCR.";
RL   Mol. Genet. Genomic Med. 3:248-257(2015).
//
RX   PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612;
RA   Stabley D.L., Holbrook J., Harris A.W., Swoboda K.J., Crawford T.O.,
RA   Sol-Church K., Butchbach M.E.R.;
RT   "Establishing a reference dataset for the authentication of spinal
RT   muscular atrophy cell lines using STR profiling and digital PCR.";
RL   Neuromuscul. Disord. 27:439-446(2017).
//
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).
//