ID   GM19978
AC   CVCL_F103
DR   CLO; CLO_0028373
DR   Coriell; GM19978
DR   Wikidata; Q54850763
CC   Sequence variation: Mutation; HGNC; HGNC:14234; NSD1; Simple; p.Arg2005Gln (c.6014G>A); ClinVar=VCV000159395; Zygosity=Unspecified (Coriell=GM19978).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75019; Sotos syndrome
DI   ORDO; Orphanet_821; Sotos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 16
//