ID   GM02343
AC   CVCL_AA20
SY   GM-2343; GM 2343
DR   CLO; CLO_0033113
DR   BioSample; SAMN00807723
DR   Coriell; GM02343
DR   GEO; GSM3592406
DR   GEO; GSM3592412
DR   Wikidata; Q54837445
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6458814;
RX   PubMed=29762696;
RX   PubMed=30905397;
CC   Population: Jewish; Ashkenazi.
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=GM02343).
CC   Omics: Transcriptome analysis by RNAseq.
CC   Misspelling: GMO2343; 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   Female
AG   24Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 14
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=6458814; DOI=10.1073/pnas.78.10.6451; PMCID=PMC349057;
RA   Scudiero D.A., Meyer S.A., Clatterbuck B.E., Tarone R.E.,
RA   Robbins J.H.;
RT   "Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in
RT   fibroblasts from patients with Huntington disease, familial
RT   dysautonomia, and other primary neuronal degenerations.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6451-6455(1981).
//
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).
//