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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
Bruun G.H., Bang J.M.V., Christensen L.L., Broner S., Petersen U.S.S., Guerra B., Gronning A.G.B., Doktor T.K., Andresen B.S.
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
Morini E., Gao D.-D., Montgomery C.M., Salani M., Mazzasette C., Krussig T.A., Swain B., Dietrich P., Narasimhan J., Gabbeta V., Dakka A., Hedrick J., Zhao X., Weetall M., Naryshkin N.A., Wojtkiewicz G.R., Ko C.-P., Talkowski M.E., Dragatsis I., Slaugenhaupt S.A.
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