• Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (PubMed=26190808; 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)

PubMed=26190808; DOI=10.1038/srep12189; PMCID=PMC4507262
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)

PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962
Deborah L. Stabley, Ashlee W. Harris, Jennifer Holbrook, Nicholas J. Chubbs, Kevin W. Lozo, Thomas Owen Crawford, Kathryn J. Swoboda, Vicky L. Funanage, Wen-Lan Wang, William Mackenzie, Mena Scavina ...Show all 13 authors... , Katia Sol-Church, Matthew E.R. Butchbach; Show fewer authors
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=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)