ID   UMi043-A
AC   CVCL_D0NW
SY   AD 381852 clone #1
DR   hPSCreg; UMi043-A
DR   Wikidata; Q123033746
RX   PubMed=38422817;
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:37; ABCA7; Simple; p.Arg578Alafs (c.1732_1775del); ClinVar=VCV000785599; Zygosity=Heterozygous (PubMed=38422817).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206083; Alzheimer disease 9, late-onset
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   90Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
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RX   PubMed=38422817; DOI=10.1016/j.scr.2024.103364;
RA   Cukier H.N., Simon S.A., Tang E., Golightly C.G., Laverde-Paz M.J.,
RA   Adams L.D., Starks T.D., Vance J.M., Cuccaro M.L., Haines J.L.,
RA   Byrd G.S., Pericak-Vance M.A., Dykxhoorn D.M.;
RT   "Generation of an induced pluripotent stem cell line (UMi043-A) from
RT   an African American patient with Alzheimer's disease carrying an
RT   ABCA7 deletion (p.Arg578Alafs).";
RL   Stem Cell Res. 76:103364-103364(2024).
//