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 Takuya Yagi, Daisuke Ito, Yohei Okada, Wado Akamatsu, Yoshihiro Nihei, Takahito Yoshizaki, Shinya Yamanaka, Hideyuki Okano, Norihiro Suzuki; 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