ID   RG-277
AC   CVCL_B695
DR   Wikidata; Q54950078
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; c.93-21G>A (IVS1,G>A,+110); ClinVar=VCV000015454; Zygosity=Homozygous (ISCR=475).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 15
//