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Cellosaurus GM04899 (CVCL_AA39)

[Text version]
Cell line name GM04899
Accession CVCL_AA39
Resource Identification Initiative To cite this cell line use: GM04899 (RRID:CVCL_AA39)
Comments Population: Caucasian.
Omics: Transcriptomics; RNAseq.
Misspelling: GMO4899; 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)
Originate from same individual CVCL_AA40 ! GM04900
Sex of cell Female
Age at sampling 12Y
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; GM04899
Cell line databases/resources CLO; CLO_0025597
Encyclopedic resources Wikidata; Q54838749
Gene expression databases GEO; GSM3592408
GEO; GSM3592414
Entry history
Entry creation23-Feb-2016
Last entry update10-Apr-2025
Version number12