Cellosaurus cell line F15553 (CVCL

Cross-references
Cell line name	F15553
Accession	CVCL_A8YX
Resource Identification Initiative	To cite this cell line use: F15553 (RRID:CVCL_A8YX)
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:620; APP; Simple; p.Val717Leu (c.2149G>C); ClinVar=VCV000018105; Zygosity=Heterozygous (PubMed=30045758).
Disease	Familial Alzheimer's disease, type 1 (NCIt: C146894) Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
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; Q108820212
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6