ID   GM23841
AC   CVCL_BW21
DR   Coriell; GM23841
DR   Wikidata; Q54853367
CC   Population: Caucasian; Irish.
CC   Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Unspecified; Note=30kb deletion in the D4Z4 microsatellite region (Coriell=GM23841).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172704; Facioscapulohumeral muscular dystrophy 1
DI   ORDO; Orphanet_269; Facioscapulohumeral dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   42Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 27-11-25; Version: 10
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