Cellosaurus cell line CJD6 (CVCL

Cross-references
Cell line name	CJD6
Accession	CVCL_D3BU
Resource Identification Initiative	To cite this cell line use: CJD6 (RRID:CVCL_D3BU)
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 (DOI=10.1101/2022.05.20.491674). Mutation; HGNC; HGNC:9449; PRNP; Simple; p.Glu200Lys (c.598G>A); ClinVar=VCV000013398; Zygosity=Heterozygous (DOI=10.1101/2022.05.20.491674).
Disease	Creutzfeldt-Jakob disease (NCIt: C26802) Inherited Creutzfeldt-Jakob disease (ORDO: Orphanet_282166)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	62Y
Category	Induced pluripotent stem cell
Web pages	https://stemcellbank.bu.edu/Catalog/Item/Details/685
Publications	DOI=10.1101/2022.05.20.491674 Le N.T.T., Mercer R.C.C., Gojanovich A.D., Anane A., Park S., Wu B., Bawa P.S., Mostoslavsky G., Harris D.A. NMDA receptor misalignment in iPSC-derived neurons from a multi- generational family with inherited Creutzfeldt-Jakob disease. bioRxiv 2022:05.20.491674-05.20.491674(2022)
Encyclopedic resources	Wikidata; Q127380570
Entry history
Entry creation	30-Jan-2024
Last entry update	19-Dec-2024
Version number	3