Cellosaurus cell line PS1-2 (CVCL

Cross-references
Cell line name	PS1-2
Accession	CVCL_T873
Resource Identification Initiative	To cite this cell line use: PS1-2 (RRID:CVCL_T873)
Comments	Population: Caucasian. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (PubMed=21900357).
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	Parent: CVCL_T877 (AG07768)
Sex of cell	Female
Age at sampling	30Y6M
Category	Induced pluripotent stem cell
Publications	PubMed=21900357; DOI=10.1093/hmg/ddr394 Yagi T., Ito D., Okada Y., Akamatsu W., Nihei Y., Yoshizaki T., Yamanaka S., Okano H., Suzuki N. Modeling familial Alzheimer's disease with induced pluripotent stem cells. Hum. Mol. Genet. 20:4530-4539(2011)
Cell line databases/resources	SKIP; SKIP000198 SKIP; SKIP001014
Encyclopedic resources	Wikidata; Q54948410
Entry history
Entry creation	03-Feb-2014
Last entry update	19-Dec-2024
Version number	15