• Mutation; HGNC; 5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=30905397).
  

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=30905397; DOI=10.1016/j.ajhg.2019.02.009; PMCID=PMC6451698
Morini E., Gao D.-D., Montgomery C.M., Salani M., Mazzasette C., Krussig T.A., Swain B., Dietrich P., Narasimhan J., Gabbeta V., Dakka A., Hedrick J., Zhao X., Weetall M., Naryshkin N.A., Wojtkiewicz G.R., Ko C.-P., Talkowski M.E., Dragatsis I., Slaugenhaupt S.A.
ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia.
Am. J. Hum. Genet. 104:638-650(2019)