Cellosaurus cell line PUMCi006-A (CVCL

Cross-references
Cell line name	PUMCi006-A
Synonyms	PUMC-iPS-PSEN2-LSM
Accession	CVCL_D0KH
Resource Identification Initiative	To cite this cell line use: PUMCi006-A (RRID:CVCL_D0KH)
Comments	From: Peking Union Medical College; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9509; PSEN2; Simple; p.Met239Thr (c.716T>C); Zygosity=Heterozygous (PubMed=38531230).
Disease	Alzheimer's disease 4 (NCIt: C123413) Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	52Y
Category	Induced pluripotent stem cell
Publications	PubMed=38531230; DOI=10.1016/j.scr.2024.103391 Wan-Wan Zhu, Jin-Juan Zhou, Li Shang, You Zhou, Qing-Yu Wang, Yue-Song Yu, Li-Ling Dong, Chen-Hui Mao, Shan-Shan Chu, Wei Jin, Jie Li, Jing Gao; Generation and characterization of an iPS cell line (PUMCi006-A) from skin fibroblasts of a patient with an M239T mutation in PSEN2 gene. Stem Cell Res. 77:103391-103391(2024)
Cell line databases/resources	hPSCreg; PUMCi006-A
Biological sample resources	BioSamples; SAMEA113557271
Encyclopedic resources	Wikidata; Q123033284
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4