ID   GM04899
AC   CVCL_AA39
DR   CLO; CLO_0025597
DR   Coriell; GM04899
DR   GEO; GSM3592408
DR   GEO; GSM3592414
DR   Wikidata; Q54838749
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: Transcriptomics; RNAseq.
CC   Misspelling: GMO4899; 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)
OI   CVCL_AA40 ! GM04900
SX   Female
AG   12Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 10-04-25; Version: 12
//
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).
//