ID   UMi039-A
AC   CVCL_C0YW
SY   AD380261
DR   BioSamples; SAMEA14096007
DR   hPSCreg; UMi039-A
DR   Wikidata; Q114313201
RX   PubMed=35671596;
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 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_C0YY ! UMi039-B
SX   Female
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
CH   CVCL_C0Z0 ! UMi039-A-1
//
RX   PubMed=35671596; DOI=10.1016/j.scr.2022.102823;
RA   DeRosa, Brooke A.
RA   Simon, Shaina Anne
RA   Velez, Christina A.
RA   Vance, Jeffery M.
RA   Pericak-Vance, Margaret Ann
RA   Dykxhoorn, Derek 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).
//