• 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
Dominic A. Scudiero, Ronald J. Polinsky, Roger Alan Brumback, Robert E. Tarone, Linda E. Nee, Jay H. Robbins;
Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical.
Mutat. Res. 159:125-131(1986)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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)

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Hui-Sheng Liu, Jian-Feng Lu, Hong Chen, Zhong-Wei Du, Xue-Jun Li, Su-Chun Zhang;
Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability.
Sci. Rep. 5:12189.1-12189.13(2015)

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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
Andrew J. Schwab, Allison D. Ebert;
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
Deborah L. Stabley, Jennifer Holbrook, Ashlee W. Harris, Kathryn J. Swoboda, Thomas Owen Crawford, Katia Sol-Church, Matthew E.R. Butchbach;
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
Thomas W. Prior, Pinar Bayrak-Toydemir, Tyler C. Lynnes, Rong Mao, James D. Metcalf, Kasinathan Muralidharan, Aiko Iwata-Otsubo, Ha T. Pham, Victoria M. Pratt, Shumaila Qureshi, Deborah Vicuna Requesens ...Show all 14 authors... , Jun-Qing Shen, Francesco Vetrini, Lisa V. Kalman; Show fewer authors
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)