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Cellosaurus GM16424 (CVCL_UT78)

[Text version]
Cell line name GM16424
Accession CVCL_UT78
Resource Identification Initiative To cite this cell line use: GM16424 (RRID:CVCL_UT78)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: At sampling donor was not affected with facioscapulohumeral muscular dystrophy but at risk for disease.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Unspecified; Note=D4Z4 repeat contraction (to 9 repeats) (PubMed=28161093).
Disease Facioscapulohumeral muscular dystrophy 1 (NCIt: C172704)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Transformed cell line
Publications

PubMed=28161093; DOI=10.1016/j.nmd.2016.12.007; PMCID=PMC5815870
Jones T.I., Himeda C.L., Perez D.P., Jones P.L.
Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.
Neuromuscul. Disord. 27:221-238(2017)

Cross-references
Cell line collections (Providers) Coriell; GM16424
Encyclopedic resources Wikidata; Q93845578
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number8