ID   GM04589
AC   CVCL_AA25
DR   CLO; CLO_0018883
DR   Coriell; GM04589
DR   GEO; GSM3592405
DR   GEO; GSM3592411
DR   Wikidata; Q54838577
RX   PubMed=29762696;
RX   PubMed=30905397;
CC   Population: Caucasian.
CC   Sequence variation: 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).
CC   Omics: Transcriptome analysis by RNAseq.
CC   Misspelling: GMO4589; PubMed=29762696.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84706; Familial dysautonomia
DI   ORDO; Orphanet_1764; Familial dysautonomia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   16Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
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RX   PubMed=29762696; DOI=10.1093/nar/gky395; PMCID=PMC6125618;
RA   Bruun G.H., Bang J.M.V., Christensen L.L., Broner S., Petersen U.S.S.,
RA   Guerra B., Gronning A.G.B., Doktor T.K., Andresen B.S.;
RT   "Blocking of an intronic splicing silencer completely rescues IKBKAP
RT   exon 20 splicing in familial dysautonomia patient cells.";
RL   Nucleic Acids Res. 46:7938-7952(2018).
//
RX   PubMed=30905397; DOI=10.1016/j.ajhg.2019.02.009; PMCID=PMC6451698;
RA   Morini E., Gao D.-D., Montgomery C.M., Salani M., Mazzasette C.,
RA   Krussig T.A., Swain B., Dietrich P., Narasimhan J., Gabbeta V.,
RA   Dakka A., Hedrick J., Zhao X., Weetall M., Naryshkin N.A.,
RA   Wojtkiewicz G.R., Ko C.-P., Talkowski M.E., Dragatsis I.,
RA   Slaugenhaupt S.A.;
RT   "ELP1 splicing correction reverses proprioceptive sensory loss in
RT   familial dysautonomia.";
RL   Am. J. Hum. Genet. 104:638-650(2019).
//