ID   UMi038-B
AC   CVCL_C0YX
DR   BioSamples; SAMEA14096096
DR   hPSCreg; UMi038-B
DR   Wikidata; Q114313200
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11185; SORL1; Simple; p.Cys1431Trpfs*2 (c.4293delC); Zygosity=Heterozygous (from autologous cell line UMi038-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2866; Alzheimer's disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C0YV ! UMi038-A
SX   Female
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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