ID   PPMI.I.1076.2.ISO.1
AC   CVCL_F4X5
SY   Iso-WT 41430 SNCA+ p.A53T ISO.1
WW   Info; PPMI; -; https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
WW   Info; PPMI; -; https://www.ppmi-info.org/access-data-specimens/download-data
CC   Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
CC   Population: Caucasian, not Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple_corrected; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PPMI).
CC   Omics: Genomics; Whole genome sequencing.
CC   Miscellaneous: PPMI study cohort PD, PPMI study subgroup SNCA.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D5S1 ! PPMI.I.1076.2
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 25-06-26; Last updated: 25-06-26; Version: 1
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