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Cellosaurus KIOMi001-A (CVCL_VN34)

[Text version]
Cell line name KIOMi001-A
Synonyms SK-C-SNCA-iPSC
Accession CVCL_VN34
Resource Identification Initiative To cite this cell line use: KIOMi001-A (RRID:CVCL_VN34)
Comments From: Korea Institute of Oriental Medicine; Daejeon; South Korea.
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 homologous recombination (PubMed=29906669).
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)
Sex of cell Female
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=29906669; DOI=10.1016/j.scr.2018.06.002
Lee S.-Y., Jeong S., Kim J., Chung S.-K.
Generation of gene-corrected iPSC line from Parkinson's disease patient iPSC line with alpha-SNCA A53T mutation.
Stem Cell Res. 30:145-149(2018)

Cross-references
Encyclopedic resources Wikidata; Q94339573
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number10