• Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (Coriell=GM00232).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=6458814; DOI=10.1073/pnas.78.10.6451; PMCID=PMC349057
Scudiero D.A., Meyer S.A., Clatterbuck B.E., Tarone R.E., Robbins J.H.
Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations.
Proc. Natl. Acad. Sci. U.S.A. 78:6451-6455(1981)

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=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)