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Cellosaurus LCSBi004-A (CVCL_A8LZ)

[Text version]
Cell line name LCSBi004-A
Synonyms ND29369-PARKIN/PRKN/PARK2-R275W-clone 1; ND29369-PARKIN/PARK2-R275W-clone 1; ND29369-clone 1; ND29369-1
Accession CVCL_A8LZ
Resource Identification Initiative To cite this cell line use: LCSBi004-A (RRID:CVCL_A8LZ)
Comments From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
Population: Latino or Hispanic; Dominican.
Omics: Array-based CGH.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=35378365).
Disease Parkinson's disease (NCIt: C26845)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DD48 (ND29369)
Sex of cell Female
Age at sampling 61Y
Category Induced pluripotent stem cell

PubMed=35378365; DOI=10.1016/j.scr.2022.102765
Novak G., Finkbeiner S., Skibinski G., Bernini M., Donato C., Skupin A.
Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson's disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004).
Stem Cell Res. 61:102765-102765(2022)

Cell line databases/resources hPSCreg; LCSBi004-A
Encyclopedic resources Wikidata; Q108820773
Entry history
Entry creation23-Sep-2021
Last entry update21-Mar-2023
Version number5