ID   GM18382
AC   CVCL_DA61
DR   CLO; CLO_0031097
DR   Coriell; GM18382
DR   Wikidata; Q54849520
CC   Sequence variation: Mutation; HGNC; HGNC:10825; SH3BP2; Simple; p.Gly420Arg (c.1258G>C); ClinVar=VCV000007552; Zygosity=Heterozygous (Coriell=GM18382).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84630; Cherubism
DI   ORDO; Orphanet_184; Cherubism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
//