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Cellosaurus PPMI.I.1076.2.ISO.1 (CVCL_F4X5)

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Cell line name PPMI.I.1076.2.ISO.1
Synonyms Iso-WT 41430 SNCA+ p.A53T ISO.1
Accession CVCL_F4X5
Resource Identification Initiative To cite this cell line use: PPMI.I.1076.2.ISO.1 (RRID:CVCL_F4X5)
Comments Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Omics: Genomics; Whole genome sequencing.
Miscellaneous: PPMI study cohort PD, PPMI study subgroup SNCA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11138; SNCA; Simple_corrected; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PPMI).
Disease Parkinson disease 1, autosomal dominant (NCIt: C198602)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D5S1 (PPMI.I.1076.2)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Web pages Info; PPMI; -; https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
Info; PPMI; -; https://www.ppmi-info.org/access-data-specimens/download-data
Entry history
Entry creation25-Jun-2026
Last entry update25-Jun-2026
Version number1