ID   UMi039-A-1
AC   CVCL_C0Z0
DR   BioSamples; SAMEA110371900
DR   hPSCreg; UMi039-A-1
DR   Wikidata; Q114313202
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11185; SORL1; Simple_corrected; p.Cys1431Trpfs*2 (c.4293delC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=UMi039-A-1).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2866; Alzheimer's disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C0YW ! UMi039-A
SX   Female
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
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