ID   GM23277
AC   CVCL_GS97
DR   Coriell; GM23277
DR   Wikidata; Q54852961
CC   Sequence variation: Mutation; HGNC; HGNC:14063; HDAC4; Simple; c.490+56_121del65; Zygosity=Heterozygous (Coriell=GM23277).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129021; Chromosome 2q37 deletion syndrome
DI   ORDO; Orphanet_1001; 2q37 microdeletion syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 11
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