• Gene amplification; HGNC; HGNC:11118; SMN2; Extensive; Zygosity=Unspecified; Note=5 copies (PubMed=28284873; PubMed=33197628).
  
• Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (PubMed=28284873).
  

PubMed=3941662; DOI=10.1016/0027-5107(86)90121-1
Scudiero D.A., Polinsky R.J., Brumback R.A., Tarone R.E., Nee L.E., Robbins J.H.
Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical.
Mutat. Res. 159:125-131(1986)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=26190808; DOI=10.1038/srep12189; PMCID=PMC4507262
Liu H.-S., Lu J.-F., Chen H., Du Z.-W., Li X.-J., Zhang S.-C.
Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability.
Sci. Rep. 5:12189-12189(2015)

PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962
Stabley D.L., Harris A.W., Holbrook J., Chubbs N.J., Lozo K.W., Crawford T.O., Swoboda K.J., Funanage V.L., Wang W.-L., Mackenzie W., Scavina M., Sol-Church K., Butchbach M.E.R.
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
Mol. Genet. Genomic Med. 3:248-257(2015)

PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004; PMCID=PMC4682343
Schwab A.J., Ebert A.D.
Neurite aggregation and calcium dysfunction in iPSC-derived sensory neurons with Parkinson's disease-related LRRK2 G2019S mutation.
Stem Cell Reports 5:1039-1052(2015)

PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612
Stabley D.L., Holbrook J., Harris A.W., Swoboda K.J., Crawford T.O., Sol-Church K., Butchbach M.E.R.
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.
Neuromuscul. Disord. 27:439-446(2017)

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)