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Cellosaurus GM17869 (CVCL_H161)

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Cell line name GM17869
Accession CVCL_H161
Resource Identification Initiative To cite this cell line use: GM17869 (RRID:CVCL_H161)
Comments Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134.
Cell type: Myoblast; CL=CL_0000056.
Sequence variations
  • Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Heterozygous; Note=D4Z4 repeat contraction (to 5 repeats) (Coriell=GM17869).
Disease Facioscapulohumeral muscular dystrophy 1 (NCIt: C172704)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_H160 ! GM17868
Sex of cell Female
Age at sampling 21Y
Category Finite cell line
Publications

CLPUB00573
Amanda Hampson;
Transcriptional analysis of the human D4Z4 and mouse Dux arrays.
Thesis PhD (2012); University of Nottingham; Nottingham; United Kingdom

Cross-references
Cell line collections (Providers) Coriell; GM17869 - Discontinued
Cell line databases/resources CLO; CLO_0016460
Encyclopedic resources Wikidata; Q54849294
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number15