ID   GM20735
AC   CVCL_5K21
DR   CLO; CLO_0028993
DR   Coriell; GM20735
DR   Wikidata; Q54851229
CC   Sequence variation: Mutation; HGNC; HGNC:9834; RAI1; Simple; p.Gln1562Arg (c.4685A>G); ClinVar=VCV000002950; Zygosity=Unspecified (Coriell=GM20735).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75469; Smith-Magenis syndrome
DI   ORDO; Orphanet_819; Smith-Magenis syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 12
//