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

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Dominic A. Scudiero, Sharon A. Meyer, Brian E. Clatterbuck, Robert E. Tarone, Jay H. Robbins;
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
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=29762696; DOI=10.1093/nar/gky395; PMCID=PMC6125618
Gitte H. Bruun, Jeanne Mari Vejen Bang, Lise L. Christensen, Sabrina Broner, Ulrika S.S. Petersen, Barbara Guerra, Alexander G.B. Gronning, Thomas Koed Doktor, Brage Storstein Andresen;
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
Elisabetta Morini, Da-Di Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka ...Show all 20 authors... , Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory Robert Wojtkiewicz, Chien-Ping Ko, Michael Edward Talkowski, Ioannis Dragatsis, Susan Ann Slaugenhaupt; Show fewer authors
ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia.
Am. J. Hum. Genet. 104:638-650(2019)