| Cell line name |
UMi028-A-2 |
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| Synonyms |
TTC3 clone 50 |
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| Accession |
CVCL_A5QS |
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| Resource Identification Initiative |
To cite this cell line use: UMi028-A-2 (RRID:CVCL_A5QS) |
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| 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. |
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| Sequence variations |
- Mutation; HGNC; HGNC:12393; TTC3; Simple_edited; p.Ser1038Cys (c.3113C>G); dbSNP=rs377155188; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33626494).
|
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Parent: CVCL_A1MH (UMi028-A) |
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| Sex of cell |
Male |
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| Age at sampling |
45Y |
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| Category |
Induced pluripotent stem cell |
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| Publications | PubMed=33626494; DOI=10.1016/j.scr.2021.102258
Mayra Juliana Laverde-Paz, Karen Nuytemans, Li-Yong Wang, Jeffery M. Vance, Margaret Ann Pericak-Vance, Derek M. Dykxhoorn, Holly N. Cukier;
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; PMCID=PMC10538380
Holly N. Cukier, Carolina L. Duarte, Mayra Juliana Laverde-Paz, Shaina Anne Simon, Derek J. Van Booven, Amanda T. Miyares, Patrice L. Whitehead, Kara L. Hamilton-Nelson, Larry Deon Adams, Regina M. Carney, Michael L. Cuccaro ...Show all 15 authors... , Jeffery M. Vance, Margaret Ann Pericak-Vance, Anthony J. Griswold, Derek M. Dykxhoorn; Show fewer authors
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) |
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| Cross-references |
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| Cell line databases/resources |
hPSCreg; UMi028-A-2
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| Encyclopedic resources |
Wikidata; Q107117326
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| Entry history |
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| Entry creation | 20-May-2021 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 7 |
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