Cellosaurus cell line F12434 (CVCL

Cross-references
Cell line name	F12434
Accession	CVCL_A8YV
Resource Identification Initiative	To cite this cell line use: F12434 (RRID:CVCL_A8YV)
Comments	Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Gly217Arg (c.649G>C); ClinVar=VCV000018159; Zygosity=Heterozygous (PubMed=30045758).
Disease	Alzheimer's disease 3 (NCIt: C123412) Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=30045758; DOI=10.1186/s13195-018-0400-0; PMCID=PMC6060509 Celeste M. Karch, Damian Hernandez, Jen-Chyong Wang, Jacob Marsh, Alex W. Hewitt, Simon Hsu, Joanne Norton, Denise Levitch, Tamara Donahue, Wendy Sigurdson, Bernardino Ghetti ...Show all 19 authors... , Martin Farlow, Jasmeer Chhatwal, Sarah Berman, Carlos Cruchaga, John C. Morris, Randall John Bateman, Alice Pebay, Alison M. Goate; Show fewer authors Dominantly Inherited Alzheimer Network (DIAN) Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. Alzheimers Res. Ther. 10:69.1-69.11(2018)
Encyclopedic resources	Wikidata; Q108820210
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6