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Cellosaurus (CVCL_RE51)

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Comments Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:613; APOE; Simple; p.Cys130Arg (c.388T>C); ClinVar=VCV000017864; Zygosity=Homozygous; Note=ApoE4 allele (PubMed=35853414).
Disease Intellectual disability (NCIt: C97250)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 82Y
Category Induced pluripotent stem cell
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5