ID   UMi038-A
AC   CVCL_C0YV
SY   AD380187
DR   BioSamples; SAMEA14096004
DR   hPSCreg; UMi038-A
DR   Wikidata; Q114313198
RX   PubMed=35671596;
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 (PubMed=35671596).
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_C0YX ! UMi038-B
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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RX   PubMed=35671596; DOI=10.1016/j.scr.2022.102823;
RA   DeRosa B.A., Simon S.A., Velez C.A., Vance J.M., Pericak-Vance M.A.,
RA   Dykxhoorn D.M.;
RT   "Generation of two iPSC lines (UMi038-A & UMi039-A) from siblings
RT   bearing an Alzheimer's disease-associated variant in SORL1.";
RL   Stem Cell Res. 62:102823-102823(2022).
//