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Cellosaurus ND50085 (CVCL_RY36)

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Cell line name ND50085
Accession CVCL_RY36
Resource Identification Initiative To cite this cell line use: ND50085 (RRID:CVCL_RY36)
Comments Population: Caucasian; Greek.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11138; SNCA; Simple_corrected; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=ND50085).
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_RY35 (ND50050)
Sex of cell Female
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=34434090; DOI=10.3389/fnmol.2021.734273; PMCID=PMC8381147
David Nguyen, Vinita Bharat, Devon M. Conradson, Pawan Nandakishore, Xin-Nan Wang;
Miro1 impairment in a Parkinson's at-risk cohort.
Front. Mol. Neurosci. 14:734273.1-734273.8(2021)

Cross-references
Cell line collections (Providers) NHCDR; ND50085
Encyclopedic resources Wikidata; Q54930313
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number12