Cellosaurus cell line F11430 (CVCL

Cellosaurus F11430 (CVCL_A8YT)

[Text version]

Cell line name

F11430

Accession

CVCL_A8YT

Resource Identification Initiative

To cite this cell line use: F11430 (RRID:CVCL_A8YT)

Comments

From: University of Melbourne; Melbourne; Australia.
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.His163Arg (c.488A>G); ClinVar=VCV000018124; 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)

Hierarchy

Children:

CVCL_E5E4 (UOMELBi004-A)

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
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=39079290; DOI=10.1016/j.scr.2024.103495; PMCID=PMC11608089
Hernandez D., Morgan Schlicht S., Clarke J.E., Daniszewski M.S., Karch C.M., Goate A.M., Pebay A.
Dominantly Inherited Alzheimer Network (DIAN)
Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation.
Stem Cell Res. 79:103495-103495(2024)

Cross-references

Encyclopedic resources

Wikidata; Q108820208

Entry history

Entry creation

23-Sep-2021

Last entry update

19-Dec-2024

Version number