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Cellosaurus F16574 (CVCL_A8YY)

[Text version]
Cell line name F16574
Accession CVCL_A8YY
Resource Identification Initiative To cite this cell line use: F16574 (RRID:CVCL_A8YY)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 620; APP; Simple; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; 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)
Hierarchy Children:
CVCL_A8YZ (UOMELBi002-A)
Sex of cell Sex unspecified
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=30045758; DOI=10.1186/s13195-018-0400-0
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.
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Alzheimers Res. Ther. 10:69.1-69.11(2018)

PubMed=34088002; DOI=10.1016/j.scr.2021.102373
Hernandez D., Schlicht S.M., Daniszewski M., Karch C.M., Goate A.M., Pebay A.
Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the London mutation in APP (V717I).
Stem Cell Res. 53:102373-102373(2021)

Cross-references
Encyclopedic resources Wikidata; Q108820213
Entry history
Entry creation23-Sep-2021
Last entry update05-Oct-2023
Version number6