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Cellosaurus CJD2CR (CVCL_D3BK)

[Text version]
Cell line name CJD2CR
Accession CVCL_D3BK
Resource Identification Initiative To cite this cell line use: CJD2CR (RRID:CVCL_D3BK)
Comments From: Boston University School of Medicine; Boston; USA.
Population: Jewish; Libyan.
Donor information: Asymptomatic for Creutzfeldt-Jakob disease.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9449; PRNP; Simple; p.Met129Val (c.385A>G); ClinVar=VCV000013397; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:9449; PRNP; Simple_corrected; p.Glu200Lys (c.598G>A); ClinVar=VCV000013398; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Boston University).
Disease Creutzfeldt-Jakob disease (NCIt: C26802)
Inherited Creutzfeldt-Jakob disease (ORDO: Orphanet_282166)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D2WC (CJD2)
Sex of cell Female
Age at sampling 61Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/825
Cross-references
Encyclopedic resources Wikidata; Q127380564
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3