ID   GM18207
AC   CVCL_HQ10
DR   CLO; CLO_0031038
DR   Coriell; GM18207
DR   Wikidata; Q54849483
CC   Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Heterozygous; Note=D4Z4 repeat contraction (to 3 repeats) (Coriell=GM18207).
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   20Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
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