Home  |  Contact

Cellosaurus UMi028-A-2 (CVCL_A5QS)

[Text version]
Cell line name UMi028-A-2
Synonyms TTC3 clone 50
Accession CVCL_A5QS
Resource Identification Initiative To cite this cell line use: UMi028-A-2 (RRID:CVCL_A5QS)
Comments From: Miller School of Medicine, University of Miami; Miami; USA.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12393; TTC3; Simple_edited; p.Ser1038Cys (c.3113C>G); dbSNP=rs377155188; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33626494).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A1MH (UMi028-A)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=33626494; DOI=10.1016/j.scr.2021.102258
Laverde-Paz M.J., Nuytemans K., Wang L., Vance J.M., Pericak-Vance M.A., Dykxhoorn D.M., Cukier H.N.
Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.
Stem Cell Res. 52:102258-102258(2021)

PubMed=37677864; DOI=10.1016/j.neurobiolaging.2023.07.007
Cukier H.N., Duarte C.L., Laverde-Paz M.J., Simon S.A., Van Booven D.J., Miyares A.T., Whitehead P.L., Hamilton-Nelson K.L., Adams L.D., Carney R.M., Cuccaro M.L., Vance J.M., Pericak-Vance M.A., Griswold A.J., Dykxhoorn D.M.
An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.
Neurobiol. Aging 131:182-195(2023)

Cross-references
Cell line databases/resources hPSCreg; UMi028-A-2
Encyclopedic resources Wikidata; Q107117326
Entry history
Entry creation20-May-2021
Last entry update30-Jan-2024
Version number6