Cellosaurus cell line CJD2 (CVCL

Cellosaurus CJD2 (CVCL_D2WC)

[Text version]

Cell line name

CJD2

Accession

CVCL_D2WC

Resource Identification Initiative

To cite this cell line use: CJD2 (RRID:CVCL_D2WC)

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)

Hierarchy

Children:

CVCL_D3BK (CJD2CR)

Sex of cell

Female

Age at sampling

61Y