ID   GM20920
AC   CVCL_HL77
DR   Coriell; GM20920
DR   Wikidata; Q54851454
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Unspecified (from child cell line WISC012i-SCA).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34383; Sickle cell disease
DI   ORDO; Orphanet_232; Sickle cell anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//