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Cellosaurus RG-418 (CVCL_B780)

[Text version]
Cell line name RG-418
Synonyms SI-418
Accession CVCL_B780
Resource Identification Initiative To cite this cell line use: RG-418 (RRID:CVCL_B780)
Comments From: Reproductive Genetics Institute; Chicago; USA.
Registration: NIH Human Embryonic Stem Cell Registry; not approved.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Ser10Valfs*14 (c.27dupG) (c.27_28insG) (cd8/9+G); ClinVar=VCV000036308; Zygosity=Heterozygous (ISCR=656).
  • Mutation; HGNC; HGNC:4827; HBB; Simple; chr11:g.71609_72227del619; ClinVar=VCV000038701; Zygosity=Heterozygous (ISCR=656).
Disease Beta thalassemia (NCIt: C34375)
Beta-thalassemia major (ORDO: Orphanet_231214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://grants.nih.gov/stem_cells/registry/not_approved.htm
Cross-references
Encyclopedic resources Wikidata; Q54950195
Entry history
Entry creation06-Jun-2012
Last entry update19-Dec-2024
Version number20