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Cellosaurus RG-417 (CVCL_B779)

[Text version]
Cell line name RG-417
Synonyms SI-417
Accession CVCL_B779
Resource Identification Initiative To cite this cell line use: RG-417 (RRID:CVCL_B779)
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:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (ISCR=655).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; c.1585-1G>A (IVS10AS,G>A,-1) (1717-1G>A); ClinVar=VCV000007112; Zygosity=Heterozygous; Note=Splice acceptor mutation (ISCR=655).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
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; Q54950194
Entry history
Entry creation06-Jun-2012
Last entry update19-Dec-2024
Version number19