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Cellosaurus GM04589 (CVCL_AA25)

[Text version]
Cell line name GM04589
Accession CVCL_AA25
Resource Identification Initiative To cite this cell line use: GM04589 (RRID:CVCL_AA25)
Comments Population: Caucasian.
Omics: Transcriptomics; RNAseq.
Misspelling: GMO4589; PubMed=29762696.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • 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).
Disease Familial dysautonomia (NCIt: C84706)
Familial dysautonomia (ORDO: Orphanet_1764)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 16Y
Category Finite cell line
Publications

PubMed=29762696; DOI=10.1093/nar/gky395; PMCID=PMC6125618
Gitte H. Bruun, Jeanne Mari Vejen Bang, Lise L. Christensen, Sabrina Broner, Ulrika S.S. Petersen, Barbara Guerra, Alexander G.B. Gronning, Thomas Koed Doktor, Brage Storstein Andresen;
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Nucleic Acids Res. 46:7938-7952(2018)

PubMed=30905397; DOI=10.1016/j.ajhg.2019.02.009; PMCID=PMC6451698
Elisabetta Morini, Da-Di Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka ...Show all 20 authors... , Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory Robert Wojtkiewicz, Chien-Ping Ko, Michael Edward Talkowski, Ioannis Dragatsis, Susan Ann Slaugenhaupt; Show fewer authors
ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia.
Am. J. Hum. Genet. 104:638-650(2019)

Cross-references
Cell line collections (Providers) Coriell; GM04589
Cell line databases/resources CLO; CLO_0018883
Encyclopedic resources Wikidata; Q54838577
Gene expression databases GEO; GSM3592405
GEO; GSM3592411
Entry history
Entry creation23-Feb-2016
Last entry update10-Apr-2025
Version number12