ID   RG-420
AC   CVCL_B782
SY   SI-420
DR   Wikidata; Q54950197
WW   Info; NIHhESC; -; https://grants.nih.gov/stem_cells/registry/not_approved.htm
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Registration: NIH Human Embryonic Stem Cell Registry; not approved.
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Ser10Valfs*14 (c.27dupG) (c.27_28insG) (cd8/9+G); ClinVar=VCV000036308; Zygosity=Heterozygous (ISCR=657).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; chr11:g.71609_72227del619; ClinVar=VCV000038701; Zygosity=Heterozygous (ISCR=657).
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: 10-04-25; Version: 21
//