ID   UMi028-A-2
AC   CVCL_A5QS
SY   TTC3 clone 50
DR   hPSCreg; UMi028-A-2
DR   Wikidata; Q107117326
RX   PubMed=33626494;
RX   PubMed=37677864;
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12393; TTC3; Simple_edited; p.Ser1038Cys (c.3113C>G); dbSNP=rs377155188; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33626494).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A1MH ! UMi028-A
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 6
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RX   PubMed=33626494; DOI=10.1016/j.scr.2021.102258;
RA   Laverde-Paz M.J., Nuytemans K., Wang L., Vance J.M.,
RA   Pericak-Vance M.A., Dykxhoorn D.M., Cukier H.N.;
RT   "Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9
RT   induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.";
RL   Stem Cell Res. 52:102258-102258(2021).
//
RX   PubMed=37677864; DOI=10.1016/j.neurobiolaging.2023.07.007;
RA   Cukier H.N., Duarte C.L., Laverde-Paz M.J., Simon S.A.,
RA   Van Booven D.J., Miyares A.T., Whitehead P.L., Hamilton-Nelson K.L.,
RA   Adams L.D., Carney R.M., Cuccaro M.L., Vance J.M., Pericak-Vance M.A.,
RA   Griswold A.J., Dykxhoorn D.M.;
RT   "An Alzheimer's disease risk variant in TTC3 modifies the actin
RT   cytoskeleton organization and the PI3K-Akt signaling pathway in
RT   iPSC-derived forebrain neurons.";
RL   Neurobiol. Aging 131:182-195(2023).
//