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Cellosaurus XWHNi002-A (CVCL_D0Q2)

[Text version]
Cell line name XWHNi002-A
Accession CVCL_D0Q2
Resource Identification Initiative To cite this cell line use: XWHNi002-A (RRID:CVCL_D0Q2)
Comments From: Department of Neurology, Xuan Wu Hospital; Beijing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 620; APP; Simple; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous (PubMed=37356183).
Disease Familial Alzheimer's disease, type 1 (NCIt: C146894)
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 35Y
Category Induced pluripotent stem cell
Publications

PubMed=37356183; DOI=10.1016/j.scr.2023.103149
Sun W.-X., Wang P., Gong J., Chen Y.-F., Yang Y.-T., Luan H.-Y., Li S.-Q., Li R.-N., Wei C.-B.
Generation of induced pluripotent stem cell line (XWHNi002-A) from a female with APP gene mutation.
Stem Cell Res. 71:103149-103149(2023)

Cross-references
Cell line databases/resources hPSCreg; XWHNi002-A
Biological sample resources BioSamples; SAMEA112859424
Encyclopedic resources Wikidata; Q123033943
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2