ID   GM20742
AC   CVCL_5K22
DR   CLO; CLO_0028999
DR   Coriell; GM20742
DR   Wikidata; Q54851245
CC   Sequence variation: Mutation; HGNC; HGNC:9834; RAI1; Simple; p.Val925fs*8 (c.2773del29); Zygosity=Unspecified (Coriell=GM20742).
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   Male
AG   29Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 12
//