ID   GM04663
AC   CVCL_7415
DR   CLO; CLO_0018968
DR   Coriell; GM04663
DR   GEO; GSM3592407
DR   GEO; GSM3592413
DR   Wikidata; Q54838620
RX   CelloPub=CLPUB00447;
RX   PubMed=29762696;
RX   PubMed=30905397;
CC   Population: Caucasian.
CC   Sequence variation: 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).
CC   Sequence variation: Mutation; HGNC; 756; ASPA; Simple; p.Tyr231Tyr (c.693C>T); ClinVar=VCV000197621; Zygosity=Heterozygous (Coriell=GM04663).
CC   Omics: Transcriptome analysis by RNAseq.
CC   Misspelling: GMO4663; PubMed=29762696.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84706; Familial dysautonomia
DI   ORDO; Orphanet_1764; Familial dysautonomia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 16
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=29762696; DOI=10.1093/nar/gky395;
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;
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).
//