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Cellosaurus GM16277 (CVCL_LN47)

[Text version]
Cell line name GM16277
Accession CVCL_LN47
Resource Identification Initiative To cite this cell line use: GM16277 (RRID:CVCL_LN47)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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 6 repeats) (PubMed=28161093).
Disease Facioscapulohumeral muscular dystrophy 1 (NCIt: C172704)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VV71 (GM27327)
Sex of cell Female
Age at sampling 77Y
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; GM16277
Encyclopedic resources Wikidata; Q54848432
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number9