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Cellosaurus PUMCi006-A (CVCL_D0KH)

[Text version]
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
Zhu W.-W., Zhou J.-J., Shang L., Zhou Y., Wang Q.-Y., Yu Y.-S., Dong L.-L., Mao C.-H., Chu S.-S., Jin W., Li J., Gao J.
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)

Cross-references
Cell line databases/resources hPSCreg; PUMCi006-A
Biological sample resources BioSamples; SAMEA113557271
Encyclopedic resources Wikidata; Q123033284
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4