• Mutation; HGNC; 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).
  
• Mutation; HGNC; HGNC:756; ASPA; Simple; p.Tyr231Tyr (c.693C>T); ClinVar=VCV000197621; Zygosity=Heterozygous (Coriell=GM02343).
  

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=29762696; DOI=10.1093/nar/gky395; PMCID=PMC6125618
Bruun G.H., Bang J.M.V., Christensen L.L., Broner S., Petersen U.S.S., Guerra B., Gronning A.G.B., Doktor T.K., Andresen B.S.
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Nucleic Acids Res. 46:7938-7952(2018)

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)