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Cellosaurus PUMCi003-A (CVCL_C0HA)

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Cell line name PUMCi003-A
Synonyms PUMC-iPS-PSEN1-1115M
Accession CVCL_C0HA
Resource Identification Initiative To cite this cell line use: PUMCi003-A (RRID:CVCL_C0HA)
Comments From: Peking Union Medical College; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003403.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Glu363Gln (c.1087G>C); Zygosity=Heterozygous (PubMed=35421846).
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)
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=35421846; DOI=10.1016/j.scr.2022.102769
Wan-Wan Zhu, You Zhou, Qing-Yu Wang, Jie Li, Shan-Shan Chu, Wei Jin, Chen-Hui Mao, Li-Ling Dong, Jing Gao, Qi Xu;
Generation of a human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient carrying an E363Q mutation in PSEN1 gene.
Stem Cell Res. 61:102769-102769(2022)

Cross-references
Cell line databases/resources hPSCreg; PUMCi003-A
Encyclopedic resources Wikidata; Q114312741
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6