ID   CJD2CR
AC   CVCL_D3BK
DR   Wikidata; Q127380564
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/825
CC   From: Boston University School of Medicine; Boston; USA.
CC   Population: Jewish; Libyan.
CC   Sequence variation: Mutation; HGNC; HGNC:9449; PRNP; Simple; p.Met129Val (c.385A>G); ClinVar=VCV000013397; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:9449; PRNP; Simple_corrected; p.Glu200Lys (c.598G>A); ClinVar=VCV000013398; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Boston University).
CC   Donor information: Asymptomatic for Creutzfeldt-Jakob disease.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26802; Creutzfeldt-Jakob disease
DI   ORDO; Orphanet_282166; Inherited Creutzfeldt-Jakob disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D2WC ! CJD2
SX   Female
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//