ID   CJD13CR
AC   CVCL_D3BM
DR   Wikidata; Q127380560
WW   Provider; CReM; 826; https://stemcellbank.bu.edu/Catalog/Item/Details/826
CC   From: Center for Regenerative Medicine; Boston; USA.
CC   Population: Jewish; Libyan.
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_D3BL ! CJD13
SX   Female
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-04-25; Version: 4
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