ID   GM02341
AC   CVCL_AA18
SY   GM-2341; GM 2341
DR   CLO; CLO_0033115
DR   BioSample; SAMN00807721
DR   Coriell; GM02341
DR   GEO; GSM3592404
DR   GEO; GSM3592410
DR   Wikidata; Q54837443
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6458814;
RX   PubMed=30905397;
CC   Population: Jewish; Ashkenazi.
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   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   Male
AG   17Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 10-04-25; Version: 14
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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, Dominic A.
RA   Meyer, Sharon A.
RA   Clatterbuck, Brian E.
RA   Tarone, Robert E.
RA   Robbins, Jay 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   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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   PubMed=30905397; DOI=10.1016/j.ajhg.2019.02.009; PMCID=PMC6451698;
RA   Morini, Elisabetta
RA   Gao, Da-Di
RA   Montgomery, Connor M.
RA   Salani, Monica
RA   Mazzasette, Chiara
RA   Krussig, Tobias A.
RA   Swain, Brooke
RA   Dietrich, Paula
RA   Narasimhan, Jana
RA   Gabbeta, Vijayalakshmi
RA   Dakka, Amal
RA   Hedrick, Jean
RA   Zhao, Xin
RA   Weetall, Marla
RA   Naryshkin, Nikolai A.
RA   Wojtkiewicz, Gregory Robert
RA   Ko, Chien-Ping
RA   Talkowski, Michael Edward
RA   Dragatsis, Ioannis
RA   Slaugenhaupt, Susan Ann
RT   "ELP1 splicing correction reverses proprioceptive sensory loss in
RT   familial dysautonomia.";
RL   Am. J. Hum. Genet. 104:638-650(2019).
//