Cellosaurus cell line F16574 (CVCL

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; 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; 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)

PubMed=34088002; DOI=10.1016/j.scr.2021.102373; PMCID=PMC10084742
Hernandez D., Schlicht S.M., Daniszewski M.S., 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 creation

23-Sep-2021

Last entry update

19-Dec-2024

Version number