ID   GM19977
AC   CVCL_F102
DR   CLO; CLO_0028378
DR   Coriell; GM19977
DR   Wikidata; Q54850762
CC   Sequence variation: Mutation; HGNC; HGNC:14234; NSD1; Simple; p.Lys2151Glnfs*15 (c.6450dupC) (c.6450-1insC); ClinVar=VCV000004141; Zygosity=Unspecified (Coriell=GM19977).
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   7Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 15
//