ID   GM21082
AC   CVCL_HM57
DR   Coriell; GM21082
DR   Wikidata; Q54851640
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu27Lys (c.79G>A) (E26K); ClinVar=VCV000015161; Zygosity=Homozygous; Note=Hb E (Coriell=GM21082).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
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
//