ID   CJD2
AC   CVCL_D2WC
DR   Wikidata; Q127380561
RX   DOI=10.1101/2022.05.20.491674;
WW   Provider; CReM; 681; https://stemcellbank.bu.edu/Catalog/Item/Details/681
CC   From: Center for Regenerative 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 (DOI=10.1101/2022.05.20.491674).
CC   Sequence variation: Mutation; HGNC; HGNC:9449; PRNP; Simple; p.Glu200Lys (c.598G>A); ClinVar=VCV000013398; Zygosity=Heterozygous (DOI=10.1101/2022.05.20.491674).
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)
SX   Female
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-04-25; Version: 4
//
RX   DOI=10.1101/2022.05.20.491674;
RA   Le N.T.T., Mercer R.C.C., Gojanovich A.D., Anane A., Park S.,
RA   Wu B., Bawa P.S., Mostoslavsky G., Harris D.A.;
RT   "NMDA receptor misalignment in iPSC-derived neurons from a multi-
RT   generational family with inherited Creutzfeldt-Jakob disease.";
RL   bioRxiv 2022:05.20.491674-05.20.491674(2022).
//