Cellosaurus cell line F12448 (CVCL

Cross-references
Cell line name	F12448
Accession	CVCL_A8YW
Resource Identification Initiative	To cite this cell line use: F12448 (RRID:CVCL_A8YW)
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:9509; PSEN2; Simple; p.Asn141Ile (c.422A>T); ClinVar=VCV000008845; Zygosity=Heterozygous (PubMed=30045758).
Disease	Alzheimer's disease 4 (NCIt: C123413) Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=30045758; DOI=10.1186/s13195-018-0400-0; PMCID=PMC6060509 Karch C.M., Hernandez D., Wang J.-C., Marsh J., Hewitt A.W., Hsu S., Norton J., Levitch D., Donahue T., Sigurdson W., Ghetti B., Farlow M., Chhatwal J., Berman S., Cruchaga C., Morris J.C., Bateman R.J., Pebay A., Goate A.M. 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; Q108820211
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6