ID   GM27452
AC   CVCL_YE55
DR   Coriell; GM27452
DR   Wikidata; Q93933236
CC   Sequence variation: Mutation; HGNC; HGNC:15573; SETBP1; Simple; p.Ser867Arg (c.2601C>A); ClinVar=VCV001878636; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27452).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129308; Schinzel-Giedion midface-retraction syndrome
DI   ORDO; Orphanet_798; Schinzel-Giedion syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YE56 ! GM27453
SX   Female
AG   4Y
CA   Transformed cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//